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GENATLAS PHENOTYPE
last update : 07-01-2014
Symbol DRM
Location 11q23.1
Name desmin related myopathy with cataract
Other name(s)
  • desminopathy, primary
  • alpha-B crystallinopathy
  • myopathy, desmin-related,associated with mutation in the CRYAB gene
  • myopathy cardioskeletal, desmin-related with cataract
  • Corresponding gene CRYAB
    Other symbol(s) MFM
    Main clinical features
  • characterized by adult onset, proximal and distal limb muscle weakness often
  • associated with neck, trunk and velopharynx muscle involvement, cardiomyopathy, cataract in many cases and delayed accumulation of aggregates of desmin in sarcoplasma of skeletal and cardiac muscle, myopathic electromyogram with abnormal electrical irritability and muscle biopsy findings of myofibrillar myopathy and mild denervation
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    eye
    cardiovascular
    Type disease
    Gene product
    Name crystallin, alpha polypeptide 2 (alpha B) (CRYAB)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein C-terminal region of alphaB-crystallin (464delCT) which is crucial for the solubilization and chaperone functions
    Remark(s)