OBO ID: DOID:0111188
Term Name: myofibrillar myopathy 9 Search Ontology:
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:
OTHER myofibrillar myopathy 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TTN Myopathy, myofibrillar, 9, with early respiratory failure 603689
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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