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Article

Genetic findings in Czech patients with limb girdle muscular dystrophy.

Clinical genetics - 1 Nov 2023

Zídková Jana, Kramářová Tereza, Kopčilová Johana, Réblová Kamila, Haberlová Jana, Mazanec Radim, Voháňka Stanislav, Gřegořová Andrea, Langová Martina, Honzík Tomáš, Šoukalová Jana, Ošlejšková Hana, Solařová Pavla, Vyhnálková Emílie, Fajkusová Lenka

Abstract excerpt

Limb girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of muscular dystrophies. The study presents an overview of molecular characteristics of a large cohort of LGMD patients who are representative of the Czech LGMD population. We present 226 LGMD probands in which 433 mutant alleles carrying 157 different variants with a supposed pathogenic effect were identified. Fifty-four variants have...

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Source

Identifiers

PMID: 37526466
DOI: 10.1111/cge.14407

Genes

CAPN3
FKRP
LAMA2
SGCG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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