Читать книгу Genetic Analysis of Complex Disease - Группа авторов - Страница 51

Duchenne muscular dystrophy (DMD) is a severe, childhood‐onset X‐linked muscular dystrophy. Becker muscular dystrophy (BMD) is allelic with DMD but typically has a later age of onset and a milder presentation. Boys with DMD typically have normal development for the first few years of life, after which rapidly progressive muscle deterioration becomes obvious. Affected males usually lose the ability to walk by age 10–12 years. The eventual loss of muscle strength in the cardiac and respiratory muscles leads to death in early adulthood. Duchenne and Becker muscular dystrophy is caused by mutations in the DMD gene, which codes for the protein dystrophin (Koenig et al. 1988). Large deletions in this gene account for approximately 60–70% of cases of DMD and BMD; however, duplications and point mutations have also been reported (Takeshima et al. 2010). Mutations in this gene that alter the reading frame typically cause DMD, while mutations that preserve the reading frame lead to BMD. Researchers are investigating a variety of therapies including exon‐skipping and read‐through of stop codons.