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Rippling muscle disease 2
- ... form. Rippling muscle syndrome RMD Genetic Testing Registry: Rippling muscle disease 2 Rippling muscle disease National Organization for Rare Disorders ( ...
- ... C. Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease. J ... coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked ...
- ... cause other caveolinopathies including limb-girdle muscular dystrophy, rippling muscle disease, isolated hyperCKemia, and a heart disorder called hypertrophic ...
- ... CAV3-related distal myopathy, limb-girdle muscular dystrophy, rippling muscle disease, and a heart disorder called hypertrophic cardiomyopathy. Several ...
- ... such as myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, rippling muscle disease, or Pompe disease. ANO5 CAPN3 CAV3 COL6A1 COL6A2 ...
- ... condition. ARAN-NM Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia Autosomal recessive neuromyotonia and axonal neuropathy Gamstorp-Wohlfart syndrome Myokymia, myotonia, and muscle wasting NMAN Genetic Testing Registry: Autosomal recessive axonal ...