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Article

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

Scientific reports - 12 Sept 2023

Sanga Shamita, Chakraborty Sudipta, Bardhan Mainak, Polavarapu Kiran, Kumar Veeramani Preethish, Bhattacharya Chandrika, Nashi Saraswati, Vengalil Seena, Geetha Thenral S, Ramprasad Vedam, Nalini Atchayaram, Basu Analabha, Acharya Moulinath

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

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Identifiers

PMID: 37699968
DOI: 10.1038/s41598-023-41487-6
PMCID: PMC10497502

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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