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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-10-2009
Symbol MFMB
Location 10q26.11
Name myofibrillar myopathy, BAG3-related
Corresponding gene BAG3
Main clinical features
  • early-onset rapidly progressive myofibrillar myopathy
  • in childhood, progressive limb and axial muscle weakness, and experienced development of cardiomyopathy and severe respiratory insufficiency in their teens
  • EMG conduction studies demonstrated myopathic motor unit potentials, and nerve conduction studies showed axonal and demyelinating peripheral neuropathy
  • electron microscopy showed disintegration of Z disks, extensive accumulation of granular debris and larger inclusions, and apoptosis of 8 p100 of the nuclei
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease