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Familial occurrence of Duchenne dystrophy through paternal lines in four families

✍ Scribed by Hunter, Alasdair


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
101 KB
Volume
42
Category
Article
ISSN
0148-7299

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Duchenne dystrophy (DMD) is an X-linked lethal condition which affects 1 in 3,500 boys. The DMD gene is deleted in about 60-65% of patients while in the remaining 35-40% the condition is caused by point mutations, small insertions, or duplications. We have ascertained 967 DMD families (680 isolated

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## Introduction: Duchenne/becker muscular dystrophies (dmd/bmd) are x-linked recessive diseases caused by mutations in the dystrophin gene. ## Methods: We used multiplex polymerase chain reaction (pcr) and short tandem repeat (str) segregation analysis for dmd/bmd-carrier detection and prenatal d