Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.

Annals of neurology - 1 Apr 2005

Schoser Benedikt G H, Frosk Patrick, Engel Andrew G, Klutzny Ursula, Lochmüller Hanns, Wrogemann Klaus

Abstract excerpt

Sarcotubular myopathy (OMIM 268950) is a rare autosomal recessive myopathy first described in two Hutterite brothers from South Dakota and in two non-Hutterite brothers from Germany. We report that sarcotubular myopathy (STM) is caused by mutation in TRIM32, the gene encoding the tripartite motif-containing protein 32. TRIM32 was found to be the gene mutated in limb girdle muscular dystrophy type 2H (LGMD2H [OMIM...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Microscopy, Electron, Transmission
Share to Muscle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Muscular Diseases

Share to Muscular Dystrophies, Limb-Girdle

Share to Transcription Factors

Share to Tripartite Motif Proteins

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 15786463
DOI: 10.1002/ana.20441

Genes

TRIM32

Variants

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.PMID 15786463Read ↗

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.Semantic proximity Read ↗

Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite.Semantic proximity Read ↗

Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation.Semantic proximity Read ↗

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

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

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

Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.