Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations
about
Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian familiesPhysiological and Pathophysiological Insights of Nav1.4 and Nav1.5 ComparisonSodium channel mutations and susceptibility to heart failure and atrial fibrillationTargeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.Sodium and chloride channelopathies with myositis: coincidence or connection?The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigreeDepolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysisSkeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.Skeletal muscle na channel disorders.Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.
P2860
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P2860
Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations
description
1994 nî lūn-bûn
@nan
1994 թուականին հրատարակուած գիտական յօդուած
@hyw
1994 թվականին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Mutations in the muscle sodium ...... predominance of two mutations
@ast
Mutations in the muscle sodium ...... predominance of two mutations
@en
Mutations in the muscle sodium ...... predominance of two mutations
@nl
type
label
Mutations in the muscle sodium ...... predominance of two mutations
@ast
Mutations in the muscle sodium ...... predominance of two mutations
@en
Mutations in the muscle sodium ...... predominance of two mutations
@nl
prefLabel
Mutations in the muscle sodium ...... predominance of two mutations
@ast
Mutations in the muscle sodium ...... predominance of two mutations
@en
Mutations in the muscle sodium ...... predominance of two mutations
@nl
P2093
P1476
Mutations in the muscle sodium ...... predominance of two mutations
@en
P2093
C Desnuelle
E Plassart
J Pelletier
P Millasseau
P304
P407
P577
1994-01-01T00:00:00Z