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Journal article

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


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Journal:
Neuromuscular disorders : NMD
Volume:
18
Issue:
7
Pages:
572-578
Publication date:
2008-07-01
DOI:
EISSN:
1873-2364
ISSN:
0960-8966
Source identifiers:
241486
Language:
English
Keywords:
Pubs id:
pubs:241486
UUID:
uuid:95f02afa-1a64-430c-9167-44ff61bc8956
Local pid:
pubs:241486
Deposit date:
2012-12-19

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