Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H

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

Research output: Contribution to journalArticle

64 Scopus citations

Abstract

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 254110]), a disorder that has been confined to the Hutterite population. The TRIM32 mutation found in the STM patients is identical to the causative mutation for LGMD2H (D487N), Haplotype analysis shows that the disease chromosomes share common ancestry.

Original languageEnglish (US)
Pages (from-to)591-595
Number of pages5
JournalAnnals of neurology
Volume57
Issue number4
DOIs
StatePublished - Apr 2005

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Schoser, B. G. H., Frosk, P., Engel, A. G., Klutzny, U., Lochmüller, H., & Wrogemann, K. (2005). Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Annals of neurology, 57(4), 591-595. https://doi.org/10.1002/ana.20441