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

Abstract

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. Genetic causes of hyperckemia have been rarely described. The authors aim to describe a benign autosomal dominant condition caused by a rare mutation in the caveolin gene. Caveolin gene encodes for structural membrane proteins in muscle. The purpose of this article was to discuss the presentation, pathophysiology, and diagnosis of familial hyperckemia secondary to a relatively unknown mutation in caveolin-3 gene.