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Article

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.

Human mutation - 1 Sept 2009

Borg Kristian, Stucka Rolf, Locke Matthew, Melin Eva, Ahlberg Gabrielle, Klutzny Ursula, Hagen Maja von der, Huebner Angela, Lochmüller Hanns, Wrogemann Klaus, Thornell Lars-Eric, Blake Derek J, Schoser Benedikt

Abstract excerpt

In 2005 the commonality of sarcotubular myopathy (STM) and limb girdle muscular dystrophy type 2H (LGMD2H) was demonstrated, as both are caused by the p D487N missense mutation in TRIM32 originally found in the Manitoba Hutterite population. Recently, three novel homozygous TRIM32 mutations have been described in LGMD patients. Here we describe a three generation Swedish family clinically presenting with limb...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19492423
DOI: 10.1002/humu.21063

Genes

TRIM32

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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