Article
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.
Neurology - 14 Mar 2000
Merlini L, Kaplan J C, Navarro C, Barois A, Bonneau D, Brasa J, Echenne B, Gallano P, Jarre L, Jeanpierre M, Kalaydjieva L, Leturcq F, Levi-Gomes A, Toutain A, Tournev I, Urtizberea A, Vallat J M, Voit T, Warter J M
Abstract excerpt
OBJECTIVE: To characterize the clinical phenotype of LGMD2C in gypsies. BACKGROUND: Limb-girdle muscular dystrophy (LGMD) in gypsies of Western Europe is caused by a homozygous C283Y mutation on the same haplotype, suggesting a founder effect. METHODS: We performed clinical, laboratory, and muscle imaging studies of 40 patients. RESULTS: Mean age at onset was 5.3 years. One half of the patients had loss of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.