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A 31-year-old member asked:

What mutation type causes duchenne muscular dystrophy?

5 doctor answers10 doctors weighed in
Dr. Chad Rudnick
Pediatrics 11 years experience
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
Dr. Johanna Fricke
Pediatrics - Developmental and Behavioral 51 years experience
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 girls can have muscle weakness, including heart. See mda.org & a geneticist.
Dr. Lois A Freisleben-Cook
Pediatrics 36 years experience
Mutation in: the gene for a protein called dystrophin which is responsible for holding muscles together, is unable to produce any of the protein. The gene is on the X chromosome. A milder form of muscular dystrophy, Becker muscular dystrophy, occurs when the gene produces too little or poorly functioning dystrophin. Partialhttp://mda.org/disease/duchenne-muscular-dystrophy
Dr. Chad Rudnick
Pediatrics 11 years experience
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
Dr. Johanna Fricke
Pediatrics - Developmental and Behavioral 51 years experience
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

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Last updated Dec 18, 2014
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