Cardiomyopathy in Mothers of Boys with Muscular Dystrophy

Arrhythmogenic right ventricular cardiomyopathy - histology. Thiene et al. Orphanet Journal of Rare Diseases 2007 2:45 doi:10.1186/1750-1172-2-45.

Duchenne and Becker muscular dystrophy are progressive neuromuscular diseases caused by mutations in the DMD gene, which encodes the protein dystrophin. About two-thirds of patients (nearly all boys) inherit the mutation in an X-linked recessive pattern from their mothers. It was thought that female carriers of this mutation would be protected from expressing the disease due to the normal copy of the DMD gene on their second X chromosome. But a new study from Nationwide Children’s Hospital reports about half of women who carry the genetic defect responsible for muscular dystrophy show evidence of cardiac fibrosis.

Read the whole report here: Cardiomyopathy in Mothers of Boys with Muscular Dystrophy.