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Article

Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Gene - 15 Nov 2024

Bulakh Maria, Polyakova Daria, Dadali Elena, Rudenskaya Galina, Sharkova Inna, Markova Tatiana, Murtazina Aysylu, Demina Nina, Kurbatov Sergei, Nikitina Natalia, Udalova Vasilisa, Polyakov Aleksander, Ryzhkova Oxana

Abstract excerpt

Sarcoglycanopathies encompass four distinct forms of limb-girdle muscular dystrophies (LGMD), denoted as LGMD R3-R6, arising from mutations within the SGCA, SGCB, SGCG, and SGCD genes. The global prevalence of sarcoglycanopathies is low, making it challenging to study these diseases. The principal objective of this study was to explore the spectrum of mutations in a cohort of Russian patients with...

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Identifiers

PMID: 38876406
DOI: 10.1016/j.gene.2024.148680

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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