Article

Identification of a shared, common haplotype cosegregating with an <i>SGCB</i> c.544A>C mutation in Indian patients affected with sarcoglycanopathy

2021-12-12

Abstract excerpt

<h4>Background</h4> Sarcoglycanopathies (SG) is the most frequent form of autosomal recessive limb-girdle muscular dystrophies (LGMD) leading to progressive muscle wasting and weakness, predominantly characterized by limb-girdle weakness. LGMDR4 is caused by mutations in SGCB encoding for the beta-sarcoglycan proteins. In this study, we describe a shared, common haplotype cosegregating in 14 SG cases from 13 unrel...

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Literature Corpus work: c3089aa8-2033-5fa2-a28e-16103b640881
DOI: 10.1101/2021.12.03.21266857

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