ArticleNeurology. Genetics2024
Homozygosity of a Founder Variant c.1508dupC in
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- Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review.BMC neurology · 2025Pooled it
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13 authors.
Johanna PalmioFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.ORCID https://orcid.org/0000-0001-9704-0145
Panu KivirantaFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.
Päivi H HartikainenFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.ORCID https://orcid.org/0000-0003-4081-9216
Pirjo IsohanniFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.
Mari AuranenFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.
Karoliina VidemanFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.
Sini PenttiläFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.
Sara LehtinenFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.
Jarkko KirjavainenFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.
Susanna HintikkaFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.
Katriina PaloviitaFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.
Janna SaarelaFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.
Bjarne UddFrom the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.ORCID https://orcid.org/0000-0002-1101-9730
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Description of 15 patients with the same variant in Methods: Nine adult and 6 pediatric patients were studied with molecular genetic and clinical investigations. Results: All patients were identified with the c.1508dupC variant in Discussion: The disease severity in our patients varied extensively from ventilator or wheelchair dependence to mild facial weakness, ptosis, and ophthalmoparesis. Most of the patients had normal transmission in conventional 3 Hz stimulation electrophysiologic studies, making the diagnosis of CMS challenging. Our cohort of adult and pediatric patients expands the phenotype of DOK7 CMS and shows the importance of correct and early diagnosis.
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