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Rippling muscle disease "2," autosomal recessive
- ... and symptoms of the condition. People with autosomal recessive rippling muscle disease generally have more severe signs and symptoms than do people ... Rippling muscle disease National Organization for Rare Disorders ( ...
- ... M, Minetti C. Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle ... coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked ...
- ... 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 ...
- ... such as myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, rippling muscle disease, or Pompe disease. ANO5 CAPN3 ... Limb-girdle muscular dystrophy can have different inheritance patterns.Most forms of this condition are inherited in an autosomal recessive pattern, which means both copies of the gene ...
