Clinical Utility Gene Card for: Becker muscular dystrophy.

Abstract

Variants in the dystrophin /DMD gene can result in Becker or Duchene muscular dystrophy (BMD and DMD, respectively, also known as 'dystrophinopathies') almost solely in male individuals as DMD is located on the X chromosome . The difference in phenotype is usually dependent on whether the variant is in frame, resulting in an internally deleted, shorter, yet partially functional dystrophin protein (BMD), or out-of-frame resulting in no dystrophin protein (DMD) [1]. However, other clinical phenotypes may arise from a DMD variant such as isolated quadriceps myopathy [2]; asymptomatic hyperCKemia [3]; myalgia , cramps and rhabdomyolysis [4]; dilated cardiomyopathy [5]; isolated cognitive impairment [6]; and symptomatic female carriers [7].