Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene

Item
http://www.wikidata.org/entity/Q28295730
Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivationFunctional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humansMyotonic disorders: A review articleGenotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysisA mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium ChannelopathyFocal and abnormally persistent paralysis associated with congenital paramyotoniaSodium and chloride channelopathies with myositis: coincidence or connection?Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.The primary periodic paralyses: diagnosis, pathogenesis and treatment.Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype.Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis.
P2860

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene

Item
http://www.wikidata.org/entity/Q28295730
description
1996 nî lūn-bûn
@nan
1996 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Paramyotonia congenita: genoty ...... ion in the sodium channel gene
@ast
Paramyotonia congenita: genoty ...... ion in the sodium channel gene
@en
Paramyotonia congenita: genoty ...... ion in the sodium channel gene
@nl
type
label
Paramyotonia congenita: genoty ...... ion in the sodium channel gene
@ast
Paramyotonia congenita: genoty ...... ion in the sodium channel gene
@en
Paramyotonia congenita: genoty ...... ion in the sodium channel gene
@nl
prefLabel
Paramyotonia congenita: genoty ...... ion in the sodium channel gene
@ast
Paramyotonia congenita: genoty ...... ion in the sodium channel gene
@en
Paramyotonia congenita: genoty ...... ion in the sodium channel gene
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Paramyotonia congenita: genoty ...... ion in the sodium channel gene
@en
P2093
P304
P31
P356
10.1016/0022-510X(96)00173-6
P407
P433
P478
P50
P577
P698