A GENE FOR AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY MAPS TOCHROMOSOME 2P

Citation
R. Bashir et al., A GENE FOR AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY MAPS TOCHROMOSOME 2P, Human molecular genetics, 3(3), 1994, pp. 455-457
Citations number
20
Categorie Soggetti
Genetics & Heredity",Biology
Journal title
ISSN journal
09646906
Volume
3
Issue
3
Year of publication
1994
Pages
455 - 457
Database
ISI
SICI code
0964-6906(1994)3:3<455:AGFARL>2.0.ZU;2-F
Abstract
The limb-girdle muscular dystrophies are a clinically and genetically heterogeneous group of disorders. We have studied two large inbred fam ilies of different ethnic origin and excluded linkage to LGMD2 on chro mosome 15q and SCARMD on chromosome 13. Proceeding to a genomic linkag e search, we have now identified linkage to markers D2S134 and D2S136 on chromosome 2p (maximum lod score 3.57 at zero recombination). The p henotype in the two families was similar, with onset in the pelvic gir dle musculature in the late teens and usually relatively slow progress ion. This work identifies a second locus for autosomal recessive limb- girdle muscular dystrophy.