Related Questions

What mutation type causes duchenne muscular dystrophy?

Duchenne MD. Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). It is inherited in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Children with the condition should be followed with a multi-specialist team approach. Read more...
DMD is caused by. mutation of Xp21.2-p21.1, a large gene that encodes dystrophin, a muscle protein. Deletions in specific areas of the gene are associated with cognitive impairment, verbal memory, auditory comprehension, increased risk of ADHD & Autistic Spectrum Disorder. Each son of a carrier mom has a 50% chance of having DMD. Carrier females need testing for cardiomyopathy, heart muscle disease. . See mda.org. Read more...