Article
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
Science (New York, N.Y.) - 3 Nov 1995
Noguchi S, McNally E M, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönnemann C G, Gussoni E, Denton P H, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance J M, Kunkel L M, Ozawa E
Abstract excerpt
Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder common in North Africa that segregates with microsatellite markers at chromosome 13q12. Here, it is shown that a mutation in the gene encoding the 35-kilodalton dystrophin-associated glycoprotein, gamma-sarcoglycan, is likely to be the primary genetic defect in this disorder. The human gamma-sarcoglycan gene...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 13
- Cytoskeletal Proteins
- DNA, Complementary
- Dystrophin
- Humans
- Linkage Disequilibrium