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Article

Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.

American journal of human genetics - 10 Dec 2010

Gundesli Hulya, Talim Beril, Korkusuz Petek, Balci-Hayta Burcu, Cirak Sebahattin, Akarsu Nurten A, Topaloglu Haluk, Dincer Pervin

Abstract excerpt

Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of inherited muscular disorders manifesting symmetric, proximal, and slowly progressive muscle weakness. Using Affymetrix 250K SNP Array genotyping and homozygosity mapping, we mapped an autosomal-recessive LGMD phenotype to the telomeric portion of chromosome 8q in a consanguineous Turkish family with three affected individuals. DNA...

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Identifiers

PMID: 21109228
DOI: 10.1016/j.ajhg.2010.10.017
PMCID: PMC2997373

Genes

PLEC

Variants

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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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