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Caveolinopathy--new mutations and additional symptoms.

Abstract:

Mutations in the caveolin-3 gene (CAV3) can lead to a broad spectrum of clinical phenotypes. Phenotypes that have so far been associated with primary caveolin-3 deficiency include limb girdle muscular dystrophy, rippling muscle disease, distal myopathy and hyperCKaemia. This is the first report describing the clinical, pathological and genetic features of patients with caveolinopathy from the UK. Ten patients (six families) were identified via the National Commissioning Group (NCG) service fo...

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Publisher copy:
10.1016/j.nmd.2008.05.003

Authors


Aboumousa, A More by this author
Hoogendijk, J More by this author
Charlton, R More by this author
Barresi, R More by this author
Herrmann, R More by this author
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Journal:
Neuromuscular disorders : NMD
Volume:
18
Issue:
7
Pages:
572-578
Publication date:
2008-07-05
DOI:
EISSN:
1873-2364
ISSN:
0960-8966
URN:
uuid:95f02afa-1a64-430c-9167-44ff61bc8956
Source identifiers:
241486
Local pid:
pubs:241486

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