Article
Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases.
American journal of medical genetics - 24 Jul 1998
Zatz M, Sumita D, Campiotto S, Canovas M, Cerqueira A, Vainzof M, Passos-Bueno M R
Abstract excerpt
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 and 287 familial cases). Screening for deletions showed a molecular deletion in 383 among 615 (62.3%) analyzed...
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