Article
[Mapping of the gene for autosomal-recessive progressive muscular dystrophy in an isolate from a highland region of Dagestan to chromosome 2-13].
Genetika - 1 Nov 1997
Illarioshkin S N, Ivanova-Smolenskaia I A, Dimborskaia S A, Poleshchuk V V, Markova E D, Slominskiĭ P A, Bulaeva K B, Tsudzi Sh
Abstract excerpt
A unique inbred Avar family from an isolate of the Dagestan highland was studied. Unusual phenotypic expression of autosomal recessive progressive muscular dystrophy was revealed in 12 members of this family from three generations. Limb-girdle (proximal) muscular dystrophy (LGMD) was detected in...
Topics
- Altitude
- Chromosome Mapping
- Chromosomes, Human, Pair 2
- Dagestan
- Disease Progression
- Female
- Genes, Recessive
- Haplotypes
- Homozygote
- Humans
- Male
- Muscular Dystrophies
- Pedigree
- Phenotype
- Recombination, Genetic