Details of Disease

General Information of Disease (ID: DISS9ZCY)

• Disease Name: Myofibrillar myopathy 4
• Synonyms: MFM4; late-onset distal myopathy, Markesbery-Griggs type; myopathy, myofibrillar, 4; myofibrillar myopathy (disease) caused by mutation in LDB3; myopathy, myofibrillar, type 4; ZASP-related myofibrillar myopathy; zaspopathy; myofibrillar myopathy type 4; LDB3 myofibrillar myopathy (disease)
• Definition: Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISNQCX2: Qualitative or quantitative defects of protein ZASP
  DISF24LW: Myofibrillar myopathy
  DISFMEP5: Autosomal dominant distal myopathy
  DISS9ZCY: Myofibrillar myopathy 4
• Disease Identifiers:
  MONDO ID: MONDO_0012277
  UMLS CUI: C4721886
  OMIM ID: 609452
  MedGen ID: 1648314
  Orphanet ID: 98912

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LDB3	OTGQL1AM	Strong	Autosomal dominant	[1]

References

• [1] Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005 Feb;57(2):269-76. doi: 10.1002/ana.20376.