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A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient

✍ Scribed by Prior, Thomas W.; Papp, Audrey C.; Snyder, Pamela J.; Burghes, Arthur H. M.; Bartolo, Claire; Sedra, Mary S.; Western, Lorraine M.; Mendell, Jerry R.


Book ID
109916644
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
571 KB
Volume
4
Category
Article
ISSN
1061-4036

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## Communicated by Ulf Landegren Duchenne and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene. Large rearrangements in the gene are found in about two-thirds of DMD patients, with B60% carrying deletions and 5-10% carrying duplications. Most of the remaining