Article
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.
Genes - 30 Aug 2024
Taneva Ani, Gresham David, Guergueltcheva Velina, Chamova Teodora, Bojinova Veneta, Gospodinova Mariana, Katzarova Maria, Petkov Radoslav, Voit Thomas, Aneva Lidia, Asenov Ognyan, Georgieva Bilyana, Mihaylova Violeta, Bichev Stoyan, Todorov Tihomir, Todorova Albena, Kalaydjieva Luba, Tournev Ivailo
Abstract excerpt
Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. We present the clinical variability of LGMD 2C/R5 among a genetically homogeneous group of 57 patients,...
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