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References OMIM Gene GeneReviews HGMD HGNC
last update : 25-06-2014
Symbol MFMZ
Location 10q23.2
Name myofibrillar myopathy ZASP-related
Corresponding gene LDB3
Main clinical features
  • onset from 45 to 73 years (mean, 54 years, muscle weakness, palpitations and mildly increased serum creatine kinase; myofibrillar myopathy on skeletal muscle biopsy, including pleomorphic hyaline, granular, and amorphous deposits on trichrome staining
  • electron microscopy showed streaming and disintegration of the Z-disks, as well as degraded and fragmented filaments in autophagic vacuoles
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease