Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
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Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug DiscoveryPredominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A geneStructure-based assessment of disease-related mutations in human voltage-gated sodium channels.Exome Sequencing and the Management of Neurometabolic Disorders.When all is lost…a severe myopathy with hypotonia from sodium channel mutations.Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.Tetraparetic critically ill patients show electrophysiological signs of myopathy.Congenital myopathies: clinical phenotypes and new diagnostic tools.Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.A mutant of the Buthus martensii Karsch antitumor-analgesic peptide exhibits reduced inhibition to hNav1.4 and hNav1.5 channels while retaining analgesic activity.Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.Sodium Channelopathies of Skeletal Muscle.Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.Spider toxin inhibits gating pore currents underlying periodic paralysis.Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.Homozygosity for Arg1142Gln causes congenital myopathy with variable disease expressionLarge-effect mutations generate trade-off between predatory and locomotor ability during arms race coevolution with deadly prey
P2860
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P2860
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Loss-of-function mutations in ...... lassical' congenital myopathy.
@ast
Loss-of-function mutations in ...... lassical' congenital myopathy.
@en
type
label
Loss-of-function mutations in ...... lassical' congenital myopathy.
@ast
Loss-of-function mutations in ...... lassical' congenital myopathy.
@en
prefLabel
Loss-of-function mutations in ...... lassical' congenital myopathy.
@ast
Loss-of-function mutations in ...... lassical' congenital myopathy.
@en
P2093
P2860
P50
P356
P1433
P1476
Loss-of-function mutations in ...... classical' congenital myopathy
@en
P2093
Andreas Slørdahl
Anna Sarkozy
Caroline A Sewry
Clara van Karnebeek
Emily C Oates
Emma Matthews
Erik-Jan Kamsteeg
Eveline Blom
Francesco Muntoni
Gianina Ravenscroft
P2860
P304
P356
10.1093/BRAIN/AWV352
P407
P50
P577
2015-12-22T00:00:00Z