CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F13%3A10196255" target="_blank" >RIV/00064203:_____/13:10196255 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/13:10196255 RIV/65269705:_____/13:#0002205 RIV/00216224:14740/13:00074864

Result on the web

<a href="http://dx.doi.org/10.1371/journal.pone.0082549" target="_blank" >http://dx.doi.org/10.1371/journal.pone.0082549</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1371/journal.pone.0082549" target="_blank" >10.1371/journal.pone.0082549</a>

Result language

angličtina

Original language name

CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel

Original language description

Myotonia congenita (MC) is a genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1) encoding the skeletal muscle chloride channel (ClC-1). Mutations of CLCN1 result in either autosomal dominant MC (Thomsen disease) or autosomal recessive MC (Becker disease). The ClC-1 protein is a homodimer with a separate ion pore within each monomer. Mutations causing recessive myotonia most likely affect properties of only the mutant monomer in the heterodimer, leaving the wild typemonomer unaffected, while mutations causing dominant myotonia affect properties of both subunits in the heterodimer. Our study addresses two points: 1) molecular genetic diagnostics of MC by analysis of the CLCN1 gene and 2) structural analysis of mutations in the homology model of the human dimeric ClC-1 protein. In the first part, 34 different types of CLCN1 mutations were identified in 51 MC probands (14 mutations were new). In the second part, on the basis of the homology model we id

Czech name

—

Czech description

—

Type

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

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

—

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2013

Confidentiality

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

Name of the periodical

PLoS ONE

ISSN

1932-6203

e-ISSN

—

Volume of the periodical

8

Issue of the periodical within the volume

12

Country of publishing house

US - UNITED STATES

Number of pages

10

Pages from-to

—

UT code for WoS article

000328730300097

EID of the result in the Scopus database

—