Article
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.
Neuromuscular disorders : NMD - 1 Aug 2018
Chamova Teodora, Bichev Stoyan, Todorov Tihomir, Gospodinova Mariana, Taneva Ani, Kastreva Kristina, Zlatareva Dora, Krupev Martin, Hadjiivanov Rosen, Guergueltcheva Velina, Grozdanova Liliana, Tzoneva Dochka, Huebner Angela, V der Hagen Maja, Schoser Benedikt, Lochmüller Hanns, Todorova Albena, Tournev Ivailo
Abstract excerpt
Mutations in TCAP gene cause autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G), congenital muscular dystrophy and autosomal dominant dilated and hypertrophic cardiomyopathy. We studied 18 affected individuals from 12 pedigrees, belonging to a Bulgarian Muslim minority from the South-West of Bulgaria, homozygous for the c.75G>A, p.Trp25X mutation in TCAP gene. The heterozygous carrier rate of...
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