Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy

Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy, Becker muscular dystrophy (BMD, OMIM 300376) is an X-linked recessive form of muscular dystrophy caused by mutations in the dystrophin gene (DMD), which is located on chromosome Xp21.2 [1]. The DMD gene is the largest gene identified in humans and contains 79 exons. Mutations in the gene result in a deficient dystrophin protein [2]., Becker muscular dystrophy (BMD, OMIM 300376) is an X-linked recessive form of muscular dystrophy caused by mutations in the dystrophin gene (DMD), which is located on chromosome Xp21.2 [1]. The DMD gene is the largest gene identified in humans and contains 79 exons. Mutations in the gene result in a deficient dystrophin protein [2]. BMD is typically associated with mutations that maintain the open reading frame, producing an internally altered but partially functional dystrophin protein, with an intact C terminal domain [3,4]., admin,

No comments: