(Q47431772)

16 January 2018

title

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. (English)

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16 January 2018

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4

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author name string

Morten Dunø

1

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16 January 2018

Eskild Colding-Jørgensen

2

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16 January 2018

Morten Grunnet

3

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16 January 2018

John Vissing

5

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16 January 2018

Marianne Schwartz

6

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16 January 2018

publication date

1 September 2004

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16 January 2018

European Journal of Human Genetics

published in

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16 January 2018

volume

12

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16 January 2018

page(s)

738-743

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16 January 2018

issue

9

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16 January 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201218

exact match

0 references

cites work

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The skeletal muscle chloride channel in dominant and recessive human myotonia

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Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

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Novel CLCN1 mutations with unique clinical and electrophysiological consequences.

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7 January 2021

Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

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Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)

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7 January 2021

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect

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Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

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7 January 2021

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

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7 January 2021

Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family

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Founder mutations and the high prevalence of myotonia congenita in northern Finland

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Fluctuating clinical myotonia and weakness from Thomsen's disease occurring only during pregnancies

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ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

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Decrement of compound muscle action potential is related to mutation type in myotonia congenita

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7 January 2021

Aging-associated down-regulation of ClC-1 expression in skeletal muscle: phenotypic-independent relation to the decrease of chloride conductance

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7 January 2021

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

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7 January 2021

Allelic Variation in Human Gene Expression

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A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain

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15000 unique zebrafish EST clusters and their future use in microarray for profiling gene expression patterns during embryogenesis

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Natural variation in human gene expression assessed in lymphoblastoid cells

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Detection of regulatory variation in mouse genes.

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Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

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7 January 2021

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

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Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor

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Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201218

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16 January 2018

PubMed ID

15162127

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16 January 2018