Familial occurrence of Duchenne dystrophy through paternal lines in four families
β Scribed by Zatz, Mayana ;Passos-Bueno, Maria Rita ;Rapaport, Debora ;Vainzof, Mariz
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 497 KB
- Volume
- 38
- 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
## 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