Search Ontology:
Human Disease

myofibrillar myopathy 9

Term ID
DOID:0111188
Synonyms
  • autosomal dominant distal myopathy with early respiratory failure
  • Edstrom myopathy
  • Hereditary inclusion body myopathy with early respiratory failure
  • hereditary myopathy with early respiratory failure
  • HIBM-ERF
  • HMERF
  • MFM-titinopathy
  • MFM9
  • MPRM
  • myofibrillar myopathy 9 with early respiratory failure
  • Myofibrillar myopathy-titinopathy
  • proximal myopathy with early respiratory muscle involvement
Definition
A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (2)
References
Ontology
Human Disease   ( DOID:0111188 )
Relationships
is a type of
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Genes Involved
Zebrafish Models