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Article

Detecting copy number variations in autosomal recessive limb-girdle muscular dystrophies using a multiplex ligation-dependent probe amplification (MLPA) assay.

Molecular and cellular probes - 1 Feb 2009

Wildförster Verena, Dekomien Gabriele

Abstract excerpt

Pathogenic mutations in the four sarcoglycan genes, designated SGCA, SGCB, SGCD and SGCG, are responsible for a subgroup of autosomal, recessive limb-girdle muscular dystrophies (LGMD 2C-F), also called sarcoglycanopathies. For the present study, we designed a multiplex ligation-dependent probe amplification (MLPA) assay, targeting all 30 coding exons and a non-coding exon of these four genes. The assay uses...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19056483
DOI: 10.1016/j.mcp.2008.11.002

Genes

SGCG
SGCA
SGCB
SGCD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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