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Article

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

American journal of human genetics - 1 Mar 2002

Frosk Patrick, Weiler Tracey, Nylen Edward, Sudha Thangirala, Greenberg Cheryl R, Morgan Kenneth, Fujiwara T Mary, Wrogemann Klaus

Abstract excerpt

Limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild autosomal recessive myopathy that was first described in the Manitoba Hutterite population. Previous studies in our laboratory mapped the causative gene for this disease to a 6.5-Mb region in chromosomal region 9q31-33, flanked by D9S302 and D9S1850. We have now used additional families and a panel of 26 microsatellite markers to construct haplotypes....

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Source

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Identifiers

PMID: 11822024
DOI: 10.1086/339083
PMCID: PMC447621

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.

Related research

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Research trail→

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Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.PMID 11822024Read ↗

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.Semantic proximity Read ↗

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

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.Semantic proximity Read ↗

TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlation.Semantic proximity Read ↗

TRIM32 and Malin in Neurological and Neuromuscular Rare DiseasesSemantic proximity Read ↗

A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.Semantic proximity Read ↗

Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?Semantic proximity Read ↗

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.Semantic proximity Read ↗

The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.Semantic proximity Read ↗

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.Semantic proximity Read ↗

Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin.Semantic proximity Read ↗

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.Semantic proximity Read ↗

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