Article
The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females.
American journal of medical genetics - 1 May 1998
Zatz M, Marie S K, Cerqueira A, Vainzof M, Pavanello R C, Passos-Bueno M R
Abstract excerpt
We investigated 52 families of patients with facioscapulohumeral muscular dystrophy (FSHD1), including 172 patients (104 males and 68 females). Among 273 DNA samples which were analyzed with probe p13E-11, 131 (67 males and 64 females) were shown to carry an EcoRI fragment smaller than 35 kb; 114...
Topics
- Adolescent
- Adult
- Child
- Deoxyribonuclease EcoRI
- Female
- Genes, Dominant
- Genes, Recessive
- Heterozygote
- Humans
- Male
- Microfilament Proteins
- Middle Aged
- Mosaicism
- Muscular Dystrophies
- Mutation
- Nuclear Proteins
- Pedigree
- Penetrance
