ArticleNeurology2019
Myasthenic congenital myopathy from recessive mutations at a single residue in Na
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Article in Neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 29 citations in OpenAlex.
- Gene variant effects across sodium channelopathies predict function and guide precision therapy.Brain : a journal of neurology · 2022Pooled it
- Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.Journal of neuromuscular diseases · 2021Pooled it
- Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.Journal of neurology · 2026Article
- Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants.Journal of human genetics · 2025Article
- Congenital myopathies: pathophysiological mechanisms and promising therapies.Journal of translational medicine · 2024Review
- Novel compound heterozygous mutations inHeliyon · 2024Article
- A retrospective study of accuracy and usefulness of electrophysiological exercise tests.Journal of neurology · 2024Article
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- Periodic paralysis.Handbook of clinical neurology · 2024Review
- Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.Journal of cellular and molecular medicine · 2022Article
- Excitability properties of mouse and human skeletal muscle fibres compared by muscle velocity recovery cycles.Neuromuscular disorders : NMD · 2022Article
- Sodium channelopathies of skeletal muscle and brain.Physiological reviews · 2021Review
- New Challenges Resulting From the Loss of Function of NaFrontiers in pharmacology · 2021Review
- Homozygous C-terminal loss-of-function NaJournal of neurology, neurosurgery, and psychiatry · 2020Article
- Manipulation of a spider peptide toxin alters its affinity for lipid bilayers and potency and selectivity for voltage-gated sodium channel subtype 1.7.The Journal of biological chemistry · 2020Article
- Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation inFrontiers in neurology · 2020Article
- Novel mutations inCold Spring Harbor molecular case studies · 2019Article
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Authors and funding
10 authors at 4 institutions in 3 countries.
Nathaniel EliaFrom the Departments of Physiology (N.E., M.Q., S.C.C.) and Neurology (P.B.S.), David Geffen School of Medicine at UCLA; Molecular and Cellular Integrative Physiology Program at UCLA (N.E., S.C.C.), Los Angeles, CA; Tampere Neuromuscular Center (J.P., T.S., B.U.), Tampere University and University Hospital, Finland; MRC Centre for Neuromuscular Diseases (M.S.C., M.G.H., R.M.), Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK; Folkhälsan Genetic Institute (B.U.), Helsinki; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Johanna PalmioFrom the Departments of Physiology (N.E., M.Q., S.C.C.) and Neurology (P.B.S.), David Geffen School of Medicine at UCLA; Molecular and Cellular Integrative Physiology Program at UCLA (N.E., S.C.C.), Los Angeles, CA; Tampere Neuromuscular Center (J.P., T.S., B.U.), Tampere University and University Hospital, Finland; MRC Centre for Neuromuscular Diseases (M.S.C., M.G.H., R.M.), Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK; Folkhälsan Genetic Institute (B.U.), Helsinki; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Marisol Sampedro CastañedaFrom the Departments of Physiology (N.E., M.Q., S.C.C.) and Neurology (P.B.S.), David Geffen School of Medicine at UCLA; Molecular and Cellular Integrative Physiology Program at UCLA (N.E., S.C.C.), Los Angeles, CA; Tampere Neuromuscular Center (J.P., T.S., B.U.), Tampere University and University Hospital, Finland; MRC Centre for Neuromuscular Diseases (M.S.C., M.G.H., R.M.), Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK; Folkhälsan Genetic Institute (B.U.), Helsinki; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Perry B ShiehFrom the Departments of Physiology (N.E., M.Q., S.C.C.) and Neurology (P.B.S.), David Geffen School of Medicine at UCLA; Molecular and Cellular Integrative Physiology Program at UCLA (N.E., S.C.C.), Los Angeles, CA; Tampere Neuromuscular Center (J.P., T.S., B.U.), Tampere University and University Hospital, Finland; MRC Centre for Neuromuscular Diseases (M.S.C., M.G.H., R.M.), Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK; Folkhälsan Genetic Institute (B.U.), Helsinki; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Marbella QuinonezFrom the Departments of Physiology (N.E., M.Q., S.C.C.) and Neurology (P.B.S.), David Geffen School of Medicine at UCLA; Molecular and Cellular Integrative Physiology Program at UCLA (N.E., S.C.C.), Los Angeles, CA; Tampere Neuromuscular Center (J.P., T.S., B.U.), Tampere University and University Hospital, Finland; MRC Centre for Neuromuscular Diseases (M.S.C., M.G.H., R.M.), Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK; Folkhälsan Genetic Institute (B.U.), Helsinki; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Tiina SuominenFrom the Departments of Physiology (N.E., M.Q., S.C.C.) and Neurology (P.B.S.), David Geffen School of Medicine at UCLA; Molecular and Cellular Integrative Physiology Program at UCLA (N.E., S.C.C.), Los Angeles, CA; Tampere Neuromuscular Center (J.P., T.S., B.U.), Tampere University and University Hospital, Finland; MRC Centre for Neuromuscular Diseases (M.S.C., M.G.H., R.M.), Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK; Folkhälsan Genetic Institute (B.U.), Helsinki; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Michael G HannaFrom the Departments of Physiology (N.E., M.Q., S.C.C.) and Neurology (P.B.S.), David Geffen School of Medicine at UCLA; Molecular and Cellular Integrative Physiology Program at UCLA (N.E., S.C.C.), Los Angeles, CA; Tampere Neuromuscular Center (J.P., T.S., B.U.), Tampere University and University Hospital, Finland; MRC Centre for Neuromuscular Diseases (M.S.C., M.G.H., R.M.), Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK; Folkhälsan Genetic Institute (B.U.), Helsinki; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Roope MännikköFrom the Departments of Physiology (N.E., M.Q., S.C.C.) and Neurology (P.B.S.), David Geffen School of Medicine at UCLA; Molecular and Cellular Integrative Physiology Program at UCLA (N.E., S.C.C.), Los Angeles, CA; Tampere Neuromuscular Center (J.P., T.S., B.U.), Tampere University and University Hospital, Finland; MRC Centre for Neuromuscular Diseases (M.S.C., M.G.H., R.M.), Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK; Folkhälsan Genetic Institute (B.U.), Helsinki; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Bjarne UddFrom the Departments of Physiology (N.E., M.Q., S.C.C.) and Neurology (P.B.S.), David Geffen School of Medicine at UCLA; Molecular and Cellular Integrative Physiology Program at UCLA (N.E., S.C.C.), Los Angeles, CA; Tampere Neuromuscular Center (J.P., T.S., B.U.), Tampere University and University Hospital, Finland; MRC Centre for Neuromuscular Diseases (M.S.C., M.G.H., R.M.), Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK; Folkhälsan Genetic Institute (B.U.), Helsinki; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Stephen C CannonFrom the Departments of Physiology (N.E., M.Q., S.C.C.) and Neurology (P.B.S.), David Geffen School of Medicine at UCLA; Molecular and Cellular Integrative Physiology Program at UCLA (N.E., S.C.C.), Los Angeles, CA; Tampere Neuromuscular Center (J.P., T.S., B.U.), Tampere University and University Hospital, Finland; MRC Centre for Neuromuscular Diseases (M.S.C., M.G.H., R.M.), Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK; Folkhälsan Genetic Institute (B.U.), Helsinki; and Neurology Department (B.U.), Vasa Central Hospital, Finland. sccannon@mednet.ucla.edu.
University College London · GBUniversity of California, Los Angeles · USMRC Prion Unit · GBTampere University · FI
Funding
Molecular Physiology of Myotonia and Periodic ParalysisR37AR042703 · NIAMS · UT SOUTHWESTERN MEDICAL CENTER · PI CANNON, STEPHEN C. · 2008 to 2018
$4.2MMuscle Cell Biology, Pathophysiology, and TherapeuticsT32AR065972 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Rachelle Hope Crosbie, THOMAS A. RANDO · 2016 to 2026
$3.9MMOLECULAR PHYSIOLOGY OF NEUROMUSCULAR DISEASESR01AR042703 · NIAMS · UT SOUTHWESTERN MEDICAL CENTER · PI CANNON, STEPHEN C. · 1994 to 2007
$2.4MTraining in Molecular, Cellular &Integrative PhysiologyT32GM065823 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI TIDBALL, JAMES G · 2003 to 2017
$2.1MMedical Research Council G0601943Medical Research Council MR/K000608/1Medical Research Council MR/M006948/1Medical Research Council MR/S005021/1NIAMS NIH HHS R01 AR042703NIAMS NIH HHS R37 AR042703NIAMS NIH HHS T32 AR065972NIGMS NIH HHS T32 GM065823
Abstract
objectiveTo identify the genetic and physiologic basis for recessive myasthenic congenital myopathy in 2 families, suggestive of a channelopathy involving the sodium channel gene,
methodsA combination of whole exome sequencing and targeted mutation analysis, followed by voltage-clamp studies of mutant sodium channels expressed in fibroblasts (HEK cells) and
resultsMissense mutations of the same residue in the skeletal muscle sodium channel, R1460 of Na
conclusionsNovel mutations in families with myasthenic congenital myopathy have been identified at p.R1460 of the sodium channel. Recessive inheritance, with experimentally established loss-of-function, is a consistent feature of sodium channel based myasthenia, whereas the mixed gain of function for p.R1460 may also cause susceptibility to myotonia.
Indexed as
AdultAnimalsElectromyographyExome SequencingFemaleFinlandHumansLaryngismusLoss of Function MutationMaleMuscle HypotoniaMuscle, SkeletalMutation, MissenseMyasthenic Syndromes, CongenitalMyotoniaNAV1.4 Voltage-Gated Sodium ChannelNAV1.4 Voltage-Gated Sodium ChannelSCN4A protein, human
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