Article
Clinical variability of facioscapulohumeral muscular dystrophy in Russia.
Muscle & nerve. Supplement - 1 Jan 1995
Kazakov V M, Rudenko D I
Abstract excerpt
One hundred forty-two patients (66 men and 76 women) from 20 autosomal-dominant pedigrees and 3 families including 5 "sporadic" cases were examined. A great similarity of clinical manifestations among those affected was noted. Clinical variability of phenotypes reflecting various phases of the disease and different expressions of the mutant gene were always within the limits of the identical final phenotype of...
Topics
- Chromosomes, Human, Pair 4
- Humans
- Muscular Dystrophy, Facioscapulohumeral
- Pedigree
- Phenotype
- Russia
