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Article

Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes.

Neuromuscular disorders : NMD - 1 May 2006

Fendri K, Kefi M, Hentati F, Amouri R

Abstract excerpt

The sarcoglycanopathies are a group of autosomal recessive limb girdle muscular dystrophies (AR-LGMD 2) characterised by mutations in gene encoding one of the sarcoglycan subunits. Mutations in SGCA, SGCB, SGCG and SGCD genes are associated with LGMD 2D, 2E, 2C and 2F, respectively. We report three Tunisian patients belonging to the same consanguineous family sharing similar LGMD 2 phenotype but heterogeneous...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16616845
DOI: 10.1016/j.nmd.2006.02.007

Genes

SGCA
SGCG
SGCB
SGCD

Provenance

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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