title: Dysferlinopathy presenting as rhabdomyolysis and acute renal failure.
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.
authors.affiliation: Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Medical School at Houston, Houston, TX 77030, USA.
authors.forename: Shadé
authors.initials: S
authors.lastname: Moody
authors.forename: Pedro
authors.initials: P
authors.lastname: Mancias
mesh_terms: D058186:Acute Kidney Injury / Q000503:physiopathology*; D000293:Adolescent; D000073939:Dysferlin; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000378:metabolism; D009124:Muscle Proteins / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis*; D012206:Rhabdomyolysis / Q000503:physiopathology*
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins