ArticleNeurology2019
Adult
Open access · greenAbstract read
In one paragraph
Article in Neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
2.9field-weighted citation impact, top 9% of its field
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.
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.
Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- Unexpected perinatal death caused by an occult MTM1 mutation: a case report.Frontiers in medicine · 2026Article
- Signs and symptoms of carriers of non-Journal of neuromuscular diseases · 2025Article
- Females with X-Linked Muscle Disorders: an underestimated patient population.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025Review
- X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement.Internal medicine (Tokyo, Japan) · 2024Article
- Potential compensatory mechanisms preserving cardiac function in myotubular myopathy.Cellular and molecular life sciences : CMLS · 2024Article
- X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy.Journal of pediatric genetics · 2023Article
- Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States.Orphanet journal of rare diseases · 2023Article
- Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy.Nature communications · 2022Article
- Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.Clinical genetics · 2021Article
- Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.International journal of molecular sciences · 2021Review
- Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.Neurology · 2021Article
- Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.Journal of neuromuscular diseases · 2021Article
- A Deep Intronic Variant Activates a Pseudoexon in theMolecular syndromology · 2020Article
- Update on Congenital Myopathies in Adulthood.International journal of molecular sciences · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 1 institution in 3 countries.
Benjamin T CocanougherFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.ORCID 0000-0003-0648-554X
Lauren FlynnFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
Pomi YunFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
Minal JainFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
Melissa WaiteFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
Ruhi VasavadaFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
Jason D WittenbachFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
Sabine de ChastonayFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
Sameer ChhibberFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
A Micheil InnesFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
Linda MacLarenFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
Tahseen MozaffarFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
Andrew E AraiFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
Sandra DonkervoortFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
Carsten G BönnemannFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.ORCID 0000-0002-5930-2324
A Reghan FoleyFrom the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine. reghan.foley@nih.gov.
Howard Hughes Medical Institute · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo better characterize adult myotubularin 1 (
methodsThis cohort study was performed at the NIH Clinical Center. Participants were required to carry a confirmed
resultsPhenotypic categories were proposed based on ambulatory status and muscle weakness. Carriers were categorized as severe (nonambulatory; n = 1), moderate (minimal independent ambulation/assisted ambulation; n = 3), mild (independent ambulation but with evidence of muscle weakness; n = 4), and nonmanifesting (no evidence of muscle weakness; n = 2). Carriers with more severe muscle weakness exhibited greater degrees of respiratory insufficiency and abnormal signal on muscle imaging. Skeletal asymmetries were evident in both manifesting and nonmanifesting carriers. Skewed XCI did not explain phenotypic severity.
conclusionThis work illustrates the phenotypic range of
Indexed as
AdultCohort StudiesFemaleHeterozygoteHumansMaleMiddle AgedMuscle, SkeletalMuscle WeaknessMutationMyopathies, Structural, CongenitalPhenotypeProtein Tyrosine Phosphatases, Non-ReceptormyotubularinProtein Tyrosine Phosphatases, Non-Receptor
Identifiers
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.