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Identification of a shared, common haplotype segregating with an SGCB c.544T>G mutation in Indian patients affected with sarcoglycanopathy

2023-04-26

Abstract excerpt

Sarcoglycanopathy is the most frequent form of autosomal recessive limb-girdle muscular dystrophies caused by mutations in SGCB gene encoding beta-sarcoglycan proteins. In this study, we describe a shared, common haplotype co-segregating in 14 sarcoglycanopathy cases from 13 unrelated families from south Indian region with the likely pathogenic homozygous mutation c.544T>G (p.Thr182Pro) in SGCB . Haplotype was rec...

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Identifiers and source

Literature Corpus work
0bc30dee-519d-519b-ac39-075ba52945dc
DOI
10.21203/rs.3.rs-2836238/v1
Open publication

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