Childhood onset homozygous recessive GDAP1 (p.Pro231Leu) mutation in a 9-year-old puerto rican pediatric female with axonal Charcot-Marie-Tooth disease: A case report.

Charcot-Marie-Tooth disease (CMT) is a progressive hereditary neuromuscular neuropathy with pathology in the myelin sheath or the axon. CMT caused by mutations in the Ganglioside-induced differentiation associated protein 1 (GDAP1) gene has been described by a spectrum of phenotypic presentations. GDAP1 is a mitochondrial protein responsible for protecting neuronal bodies from oxidative stress.

Familial Hyperckemia and Calf Hypertrophy Secondary to a Caveolin-3 Mutation.

Idiopathic hyperckemia has been described as persistent serum creatine kinase elevation at least 1.5 times the upper limit of normal in individuals with otherwise normal laboratory findings and neurological examination. This type of hyperckemia encompasses both sporadic and familial cases, which have been found to be asymptomatic or subclinical, presenting with mild symptoms, such as myalgias or cramps.