Condition: Limb-girdle muscular dystrophy type 2H


rs111033570 in ASTN2;TRIM32 gene and Limb-girdle muscular dystrophy type 2H PMID 11822024 2002 On the basis of our results, the mutation in the tripartite-motif-containing gene (TRIM32) that replaces aspartate with asparagine at position 487 appears to be the causative mutation of LGMD2H.

PMID 17994549 2008 Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

PMID 21775502 2011 To get insight into TRIM32's role in the pathogenesis of LGMD2H and to create an accurate model of disease, we have generated a knock-in mouse (T32KI) carrying the c.1465G > A (p.D489N) mutation in murine Trim32 corresponding to the human LGMD2H/STM pathogenic mutation c.1459G > A (p.D487N).

PMID 15786463 2005 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.

PMID 11822024 2002 Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.