Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia
about
A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channelA novel mutation in CLCN1 associated with feline myotonia congenitaChannelopathies of skeletal muscle excitabilityImpaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutationsThe non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.Myotonia congenita in northern Finland: an epidemiological and genetic study.Unraveling monogenic channelopathies and their implications for complex polygenic diseaseCLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channelPhysiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotoniaMoroccan consanguineous family with Becker myotonia and reviewA new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro.Heteromultimeric CLC chloride channels with novel properties.Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsyNovel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.Nondystrophic myotonia: challenges and future directions.Carboxy-terminal truncations modify the outer pore vestibule of muscle chloride channelsClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutationsFunctional complementation of truncated human skeletal-muscle chloride channel (hClC-1) using carboxyl tail fragments.Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix.Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes.CLCN1/2/KA/KB transport cytosolic Cl- to extracellular regionA case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient
P2860
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P2860
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia
description
1995 nî lūn-bûn
@nan
1995 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
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1995年学术文章
@wuu
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
name
Spectrum of mutations in the m ...... ne (CLCN1) leading to myotonia
@ast
Spectrum of mutations in the m ...... ne (CLCN1) leading to myotonia
@en
Spectrum of mutations in the m ...... ne (CLCN1) leading to myotonia
@nl
type
label
Spectrum of mutations in the m ...... ne (CLCN1) leading to myotonia
@ast
Spectrum of mutations in the m ...... ne (CLCN1) leading to myotonia
@en
Spectrum of mutations in the m ...... ne (CLCN1) leading to myotonia
@nl
prefLabel
Spectrum of mutations in the m ...... ne (CLCN1) leading to myotonia
@ast
Spectrum of mutations in the m ...... ne (CLCN1) leading to myotonia
@en
Spectrum of mutations in the m ...... ne (CLCN1) leading to myotonia
@nl
P2093
P2860
P1476
Spectrum of mutations in the m ...... ne (CLCN1) leading to myotonia
@en
P2093
C Meyer-Kleine
K Steinmeyer
T J Jentsch
P2860
P304
P407
P577
1995-12-01T00:00:00Z