Annotation Detail
Information
- Associated Genes
- CAV3
- Associated Variants
-
CAV3 p.Pro105Leu (p.P105L)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Pro105Leu (p.P105L) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- Muscular Dystrophies, Limb-Girdle
- Source Database
- DisGeNET
- Description
- Here, we explored the functional consequences of a Cav-3 mutation (P104L) inducing the 1C type limb-girdle muscular dystrophy (LGMD 1C) in human on intracellular Ca(2+) regulation of adult skeletal muscle fibres.
- Pubmed
- 18509671
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.251139048276957
- Year of publication
- 2008
Drugs