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.
OkahashiSOgawaGSuzukiM. Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase, typical distribution of muscle involvement shown by MRI but not by CT. Intern Med. 2008;47:305–307.
4.
ParadasCGonzalez-QueredaLDe LunaN. A new phenotype of dysferlinopathy with congenital onset. Neuromuscul Disord. 2009;19:21–25.
5.
KlingeLDeanAFKressW. Late onset in dysferlinopathy widens the clinical spectrum. Neuromuscul Disord. 2008;18:288–290.
6.
NguyenKBassezGKrahnM. Phenotypic study in 40 patients with dysferlin gene mutations high frequency of atypical phenotype. Arch Neurol. 2007;64:1176–1182.
7.
IllaIDe LunaNDomínguez-PerlesR. Symptomatic dysferlin gene mutation carriers: characterization of two cases. Neurology. 2007;68:1284–1289.
8.
RosalesXGastier-FosterJLewisS. Novel diagnostic features of dysferlinopathies. Muscle Nerve. 2010;42:14–21.
9.
KlingeLAboumousaAEagleM. New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry. 2010;81:946–953.