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Article

A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With Sarcoglycanopathy.

Clinical genetics - 1 Feb 2026

Sezer Abdullah, Büke Afife, Kazan Hasan Hüseyin, Kablan Ahmet, Alay Mustafa Tarık, Talim Beril, Yüksel Deniz, Saat Hanife

Abstract excerpt

Sarcoglycanopathies are autosomal recessive muscular dystrophies characterized by progressive muscle weakness and represent a major subset of limb-girdle muscular dystrophies (LGMDs). They result from pathogenic variants in sarcoglycan genes (SGCA, SGCB, SGCD, and SGCG), which encode subunits of a tetrameric transmembrane complex that stabilizes the dystrophin-associated glycoprotein complex. Among these, SGCG is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40785021
DOI: 10.1111/cge.70041

Genes

SGCG
SGCA
SGCB
SGCD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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