rippling muscle disease 2
An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.
MONDO:0020704
inherited rippling muscle disease
is_a
CAV3 autosomal dominant limb-girdle muscular dystrophy
exact
CAV3 rippling muscle disease
exact
LGMD1C
exact
RMD2
exact
autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3
exact
limb-girdle muscular dystrophy due to caveolin-3 deficiency
exact
limb-girdle muscular dystrophy type 1C
related
muscular dystrophy limb-girdle type IC
exact
muscular dystrophy, limb-girdle, type 1C
related
muscular dystrophy, limb-girdle, type IC
related
rippling muscle disease 2
exact
rippling muscle disease caused by mutation in CAV3
exact
rippling muscle disease type 2
exact