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Article

LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.

Neuromuscular disorders : NMD - 1 May 1998

Bönnemann C G, Wong J, Ben Hamida C, Hamida M B, Hentati F, Kunkel L M

Abstract excerpt

Four of the currently recognized autosomal recessive limb-girdle muscular dystrophies (LGMD type 2C-F) are caused by mutations in the genes encoding components of the sarcoglycan complex. LGMD 2C, caused by mutations in gamma-sarcoglycan, is prevalent in northern Africa, especially in Tunisia, wh...

Topics

Adolescent
Adult
Chromosome Mapping
Cytoskeletal Proteins
Dystroglycans
Exons
Genetic Linkage
Homozygote
Humans
Membrane Glycoproteins
Muscular Dystrophies
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Tunisia

Source

Identifiers

PMID: 9631401
DOI: 10.1016/s0960-8966(98)00014-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9631401-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.PMID 9631401Read ↗

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.Semantic proximity Read ↗

Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.Semantic proximity Read ↗

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).Semantic proximity Read ↗

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