Article
[Carrier detection in families affected by Duchenne/Becker muscular dystrophy].
Orvosi hetilap - 23 Dec 2007
Pikó Henriett, Nagy Bálint, Balog Judit, Bán Zoltán, Herczegfalvi Agnes, Karcagi Veronika
Abstract excerpt
Duchenne/Becker muscular dystrophy is a severe, recessive, X-linked neuromuscular disease with an incidence of 1/3500 (Duchenne type) and 1/30,000 (Becker type) in newborn boys. The gene responsible for the Duchenne/Becker muscular dystrophy phenotype is located at Xp21 and its 427 kD protein product is called dystrophin. Deletions, point mutations and rarely duplications can occur almost anywhere in the DMD...
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