Details of Disease

General Information of Disease (ID: DISXVMI3)

• Disease Name: Myosclerosis
• Synonyms: myosclerosis, autosomal recessive; myosclerosis, congenital, of Lowenthal; myopathy, myosclerotic; congenital myosclerosis, LC6wenthal type; myosclerosis, congenital; congenital myosclerosis, Lwenthal type
• Definition: Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.|Reason: duplicate. This will be merged with MONDO:0100225 collagen 6-related myopathy
• Disease Hierarchy:
  DISD715V: Hereditary neurological disease
  DISU0K94: Hereditary skeletal muscle disorder
  DISF4E3M: Collagen 6-related myopathy
  DISXVMI3: Myosclerosis
• Disease Identifiers:
  MONDO ID: MONDO_0009714
  MESH ID: C564968
  UMLS CUI: C1850671
  OMIM ID: 255600
  MedGen ID: 338098
  Orphanet ID: 289380
  SNOMED CT ID: 763895001

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
COL6A2	OTQC6PPO	Supportive	Autosomal recessive	[1]

References

• [1] Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology. 2008 Oct 14;71(16):1245-53. doi: 10.1212/01.wnl.0000327611.01687.5e.