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Article

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.

Human mutation - 1 Jul 2005

White Stefan J, Uitte de Willige Shirley, Verbove Dennis, Politano Luisa, Ginjaar Ieke, Breuning Martijn H, den Dunnen Johan T

Abstract excerpt

We have designed Multiplex Amplifiable Probe Hybridization (MAPH) probes for 28 exons of the sarcoglycan genes SGCA, SGCB, SGCG, and SGCD. The set was used to screen DNA from limb-girdle muscular dystrophy (LGMD) patients for the presence of pathogenic deletion or duplication mutations. An unexpected heterozygous deletion of SGCG exon 7 was detected in a patient from a consanguineous family in which a known...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15954112
DOI: 10.1002/humu.9347

Genes

SGCG
SGCA
SGCB
SGCD

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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