Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F11%3A00054890" target="_blank" >RIV/00216224:14740/11:00054890 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene

Original language description

Congenital myotonia is caused by mutations in the CLCN1 chloride channel gene. It can be inherited as either an autosomal dominant (Thomsen's myotonia) or a recessive (Becker's myotonia) trait.All the cases but one are sporadic, thus the majority of patients in our population have Becker's form of myotonia congenita.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2011

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Ceska a slovenska neurologie a neurochirurgie

ISSN

1210-7859

e-ISSN

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Volume of the periodical

74

Issue of the periodical within the volume

4

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

4

Pages from-to

467-470

UT code for WoS article

000294035900010

EID of the result in the Scopus database

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