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Article

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

BMC neurology - 19 Aug 2014

Stehlíková Kristýna, Skálová Daniela, Zídková Jana, Mrázová Lenka, Vondráček Petr, Mazanec Radim, Voháňka Stanislav, Haberlová Jana, Hermanová Markéta, Zámečník Josef, Souček Ondřej, Ošlejšková Hana, Dvořáčková Nina, Solařová Pavla, Fajkusová Lenka

Abstract excerpt

BACKGROUND: Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that cause predominantly weakness and wasting of the shoulder and pelvic girdle muscles. In this study, we determined the frequency of LGMD subtypes within a cohort of Czech LGMD2 patients using mutational analysis of the CAPN3, FKRP, SGCA, and ANO5 genes. METHODS: PCR-sequencing...

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Source

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Identifiers

PMID: 25135358
DOI: 10.1186/s12883-014-0154-7
PMCID: PMC4145250

Genes

CAPN3
ANO5
DYSF
FKRP
SGCA
SGCB

Provenance

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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