Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.
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.
Schoser
Benedikt G H
BG
Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians University, Munich, Germany. bschoser@med.uni-muenchen.de
Frosk
Patrick
P
Engel
Andrew G
AG
Klutzny
Ursula
U
Lochmüller
Hanns
H
Wrogemann
Klaus
K
D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D046529:Microscopy, Electron, Transmission; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics*; D000070584:Tripartite Motif Proteins; D044767:Ubiquitin-Protein Ligases
D009124:Muscle Proteins; D014157:Transcription Factors; D000070584:Tripartite Motif Proteins; C094027:TRIM32 protein, human; D044767:Ubiquitin-Protein Ligases