Evidence map›Paper›PMID 37077559›Full record

ArticleNeurology. Genetics2023

Novel Homozygous Variant in

Ian C Smith, Chantal A Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar and 13 more

Abstract read

PubMed Full text at PMC Publisher

In one paragraph

Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it

0cells of the map it votes in

6citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

Uncovering Coenzyme Q10-Related Genetic Determinants of Statin-Associated Muscle Symptoms: Evidence from the UK Biobank and the All of Us Research Program.Clinical pharmacology and therapeutics · 2026
Article
The weight of genotype on the clinical presentation of COQ7-related hereditary motor axonal neuropathy: a case series and literature review.Arquivos de neuro-psiquiatria · 2026
Review
Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels inAntioxidants (Basel, Switzerland) · 2025
Review
Understanding coenzyme Q.Physiological reviews · 2024
Review
COQ7 defect causes prenatal onset of mitochondrial CoQEuropean journal of human genetics : EJHG · 2024
Article
Report on the 6th Ottawa International Conference on Neuromuscular Disease & Biology - September 7-9, 2023, Ottawa, Canada.Journal of neuromuscular diseases
Article

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

Ian C SmithThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0001-5269-1710

Chantal A PileggiThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0002-9161-0060

Ying WangThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0003-1339-9017

Kristin KernohanThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.

Taila HartleyThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0002-1957-9820

Hugh J McMillanThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0001-8927-2018

Marcos Loreto SampaioThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0002-4081-0169

Gerd MelkusThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0001-5387-8958

John WoulfeThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0002-7382-6343

Gaganvir ParmarThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.

Pierre R BourqueThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0002-7455-0254

Ari BreinerThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0002-5225-3208

Jocelyn ZwickerThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0003-3687-8571

C Elizabeth PringleThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.

Olga JarinovaThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0001-6148-2240

Hanns LochmüllerThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0003-2324-8001

David A DymentThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0001-9085-3602

Bernard BraisThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0003-1394-3561

Kym M BoycottThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0003-4186-8052

Care4Rare Canada Consortium,

Siegfried HekimiThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0002-3592-5711

Mary-Ellen HarperThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0003-3864-5886

Jodi Warman-ChardonThe Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), University of Ottawa, Ontario; Department of Biology (Y.W., S.H.), McGill University, Montreal, Quebec; Children's Hospital of Eastern Ontario Research Institute (K.K., T.H., O.J., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; Newborn Screening Ontario (K.K.), Ottawa; Departments of Pediatrics, Neurology, & Neurosurgery (H.J.M.), Montreal Children's Hospital, McGill University, Montreal, Quebec; Department of Radiology, Radiation Oncology and Medical Physics (M.L.S., G.M.), University of Ottawa, Ontario; Department of Laboratory Medicine (J.W.), The Ottawa Hospital, Ontario; Department of Medicine (Neurology) (P.R.B., A.B., J.Z., E.P., C.E.P., H.L., J.W.-C.), The Ottawa Hospital, Ontario; Faculty of Medicine/Brain and Mind Research Institute (A.B., H.L., D.A.D., K.M.B., J.W.-C.), University of Ottawa, Ontario; and Department of Neurology and Neurosurgery (B.B.), Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.ORCID https://orcid.org/0000-0002-0187-2199

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Coenzyme Q Methods: Affected family members underwent clinical assessments that included nerve conduction testing, histologic analysis, and MRI. Pathogenicity of the Results: Three affected siblings, ranging from 12 to 24 years of age, presented with a severe length-dependent motor neuropathy with marked symmetric distal weakness and atrophy with normal sensation. Muscle biopsy of the quadriceps revealed chronic denervation pattern. An MRI examination identified moderate to severe fat infiltration in distal muscles. Exome sequencing demonstrated the homozygous Discussion: This report describes a new neurologic phenotype of

Identifiers

PMID37077559

DOI10.1212/NXG.0000000000200048

PMCPMC10108386

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