Novel N-terminal truncating CLCN1 mutation in severe Becker disease
Muscle Nerve
.
2014 Nov;50(5):866-7.
doi: 10.1002/mus.24312.
Epub 2014 Sep 24.
Authors
Franziska Hoche
1
,
Kay Seidel
,
Eduardo Barbosa-Sicard
,
Tonio Heidegger
,
Jun-Suk Kang
,
Rainer Koenig
,
Matthias Kieslich
Affiliation
1
Department of Neuropediatrics, Goethe University, Frankfurt am Main, Germany.
PMID:
24920213
DOI:
10.1002/mus.24312
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Adolescent
Chloride Channels / genetics*
Humans
Male
Mutation / genetics*
Myotonia Congenita / genetics*
Substances
CLC-1 channel
Chloride Channels