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Article

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Neuromuscular disorders : NMD - 1 Apr 2009

Cossée Mireille, Lagier-Tourenne Clotilde, Seguela Claire, Mohr Michel, Leturcq France, Gundesli Hulya, Chelly Jamel, Tranchant Christine, Koenig Michel, Mandel Jean-Louis

Abstract excerpt

Molecular diagnosis of monogenic diseases with high genetic heterogeneity is usually challenging. In the case of limb-girdle muscular dystrophy, multiplex Western blot analysis is a very useful initial step, but that often fails to identify the primarily affected protein. We report how homozygosity analysis using a genome-wide SNP array allowed us to solve the diagnostic enigma in a patient with a moderate form...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophies, Limb-Girdle

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Source

Identifiers

PMID: 19303295
DOI: 10.1016/j.nmd.2009.02.003

Genes

TRIM32

Variants

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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Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.PMID 19303295Read ↗

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Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.Semantic proximity Read ↗

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).Semantic proximity Read ↗

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