Publication:

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H (2005)

Author(s): Schoser BG, Frosk P, Engel AG, Klutzny U, Lochmuller H, Wrogemann K

    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.

      • Date: 22-03-2005
      • Journal: Annals of Neurology
      • Volume: 57
      • Issue: 4
      • Pages: 591-595
      • Publisher: John Wiley & Sons, Inc.
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: Adult Child, Preschool DNA Mutational Analysis Haplotypes Humans Infant Male Microscopy, Electron, Transmission Muscle Proteins/ genetics Muscle, Skeletal/ pathology/ultrastructure Muscular Diseases/ genetics Muscular Dystrophies, Limb-Girdle/ genetics Mutation Transcription Factors/ genetics

      Staff

      Professor Hanns Lochmuller
      Professor of Experimental Myology