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Rippling muscle disease
- Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The ... 30 seconds and may be painful.People with rippling muscle disease may have overgrowth (hypertrophy) of some muscles, especially ...
- ... gene mutations have been identified in people with rippling muscle disease, a condition in which the muscles are unusually ... they are stretched.CAV3 gene mutations that cause rippling muscle disease result in a shortage of caveolin-3 protein ...
- ... such as myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, rippling muscle disease, or Pompe disease. ANO5 CAPN3 CAV3 COL6A1 COL6A2 ...
- ... CAV3-related distal myopathy, limb-girdle muscular dystrophy, rippling muscle disease, and a heart disorder called hypertrophic cardiomyopathy. Several ...
- ... cause other caveolinopathies including limb-girdle muscular dystrophy, rippling muscle disease, isolated hyperCKemia, and a heart disorder called hypertrophic ...
- ... after voluntary tensing (contraction), muscle cramps, and involuntary rippling movement of the muscles (myokymia). Autosomal recessive axonal ... condition. ARAN-NM Autosomal recessive ... Genetic Testing Registry: Autosomal recessive axonal ...
- ... new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet. ...
