- 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...
Expand abstract - Publisher copy:
- 10.1016/j.nmd.2008.05.003
-
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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
- Copyright date:
- 2008
Journal article
Caveolinopathy--new mutations and additional symptoms.
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