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

Nature Scientific reports, Vol. 13, Issue 1, Pages 15095, 2023

PMID: 37699968

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.544 T > G (p.Thr182Pro) in SGCB.

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  https://www.ncbi.nlm.nih.gov/pubmed/37699968

 

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