The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy

Neuromuscul Disord. 2010 Apr;20(4):255-9. doi: 10.1016/j.nmd.2010.01.012. Epub 2010 Feb 19.


Mutations in alpha-B crystallin gene (CRYAB) have been described to cause congenital cataracts, dilated cardiomyopathy and myofibrillar myopathy. For skeletal myopathy, only three different mutations have been reported within the last decade. Here we describe for the first time the missense mutation p.Gly154Ser to be associated with a late-onset distal vacuolar myopathy with protein aggregates without respiratory or cardiac dysfunction, and without significant cataracts. The mutation affects a residue in a highly preserved domain of alpha-B crystallin and has been identified earlier in patients with isolated cardiomyopathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • Amino Acid Substitution / genetics
  • DNA Mutational Analysis
  • Distal Myopathies / genetics*
  • Distal Myopathies / metabolism*
  • Distal Myopathies / physiopathology
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Inclusion Bodies / genetics
  • Inclusion Bodies / metabolism
  • Inclusion Bodies / pathology
  • Male
  • Muscle Fibers, Skeletal / metabolism
  • Muscle Fibers, Skeletal / pathology
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Mutation, Missense / genetics*
  • Protein Structure, Tertiary / genetics
  • alpha-Crystallin B Chain / genetics*


  • CRYAB protein, human
  • alpha-Crystallin B Chain