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GENATLAS PHENOTYPE
last update : 19-11-2012
Symbol LGMD2H
Location 9q33.1
Name limb-girdle muscular dystrophy 2H
Other name(s) sarcotubular myopathy
Corresponding gene TRIM32
Main clinical features
  • Mannitoba Hutterite type, mild form
  • sarcotubular myopathy characterized by moderately elevated serum creatine kinase levels, slowly progressive weakness and wasting of the proximal limb musculature and a relatively late onset in the second or third decade of life
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name tripartite motif containing 32
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     1459G>A
    Remark(s)
  • TRIM32 mutations, D487N and R394H impair ubiquitin ligase activity towards dysbindin and were mislocalized in heterologous cells (PMID: 19349376))
  • clustered in the NHL beta-propeller domain at the C-terminus and are predicted to interfere with homodimerization