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Journal article

The skeletal muscle sodium and chloride channel diseases.

Abstract:

The cause of several familial muscular diseases have recently been linked to mutations within skeletal muscle sodium and chloride channel genes. Thomsen's and Becker's diseases are autosomal dominant and recessive, respectively, and are caused by at least seven different mutations in the CLCN1 (ClC-1) skeletal muscle chloride channel gene on chromosome 7q35. Hyperkalaemic periodic paralysis, paramyotonia congenita and a small heterogeneous group of related 'pure' myotonias are autosomal domin...

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Publication status:
Published

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Publisher copy:
10.1093/brain/118.2.547

Authors


Hudson, AJ More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience, WTC Human Genetics
Bulman, DE More by this author
Journal:
Brain : a journal of neurology
Volume:
118 ( Pt 2)
Issue:
2
Pages:
547-563
Publication date:
1995-04-05
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
URN:
uuid:31f26730-ce23-44f2-a5c6-90a89ff9d95d
Source identifiers:
35679
Local pid:
pubs:35679

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