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Disease: Myopathy Hutterite type

  • Autosomal recessive muscular dystrophy in Manitoba Hutterites
  • Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H
  • Extending the clinical and mutational spectrum of <em>TRIM32</em>-related myopathies in a non-Hutterite population
  • Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population
  • Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy
  • Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H
  • Limb-girdle muscular dystrophy 2H and the role of TRIM32
  • Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene
  • Muscular dystrophy in Saskatchewan Hutterites
  • Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H
  • Reversible Mitochondrial Fragmentation in iPSC-Derived Cardiomyocytes From Children With DCMA, a Mitochondrial Cardiomyopathy
  • Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite
  • 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
  • Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H
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