Article
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.
Brain : a journal of neurology - 1 Dec 1996
Illarioshkin S N, Ivanova-Smolenskaya I A, Tanaka H, Vereshchagin N V, Markova E D, Poleshchuk V V, Lozhnikova S M, Sukhorukov V S, Limborska S A, Slominsky P A, Bulayeva K B, Tsuji S
Abstract excerpt
We describe a unique six-generation, highly consanguineous family originating from an isolated mountainous village in the Russian province of Daghestan. Three separate clinical phenotypes of progressive muscular dystrophy were identified in this large family. Seven patients developed a classical...
Topics
- Adolescent
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 2
- Dystrophin
- Female
- Genetic Linkage
- Haplotypes
- Humans
- Male
- Muscular Dystrophies
- Pedigree
- Phenotype