A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony-Reference-Cited by-同舟云学术

A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony

Published:2012-04 Issue:4 Volume:22 Page:361-367
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Wijnberg Inge D.,Owczarek-Lipska Marta,Sacchetto Roberta,Mascarello Francesco,Pascoli Francesco,Grünberg Walter,van der Kolk Johannes H.,Drögemüller Cord

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference23 articles.

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2. Novel CLCN1 mutations with unique clinical and electrophysiological consequences;F-;Brain,2002

3. Neurological channelopathies;Kullmann;Annu Rev Neurosci,2010

4. Molecular basis for decreased muscle chloride conductance in the myotonic goat;Beck;Proc Natl Acad Sci USA,1996

5. Muscle channelopathies and electrophysiological approach;Cherian;Ann Indian Acad Neurol,2008

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