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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| http://dx.doi.org/10.1177/0883073812444607 | DOI Listing |
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