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  • Title: Dysferlinopathy presenting as rhabdomyolysis and acute renal failure.
    Author: Moody S, Mancias P.
    Journal: J Child Neurol; 2013 Apr; 28(4):502-5. PubMed ID: 22550092.
    Abstract:
    Dysferlinopathies are a heterogeneous group of autosomal recessive muscle disorders resulting from defects or deficiencies in dysferlin. Reported phenotypes range from isolated hyperCKemia to muscular dystrophy. We present a 15-year-old male adolescent who was diagnosed with a dysferlinopathy after presenting with acute renal failure secondary to rhabdomyolysis.
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