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DO Term : myofibrillar myopathy 9 [DOID:0111188] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • autosomal dominant distal myopathy with early respiratory failure,
  • myofibrillar myopathy 9 with early respiratory failure,
  • proximal myopathy with early respiratory muscle involvement,
  • hereditary myopathy with early respiratory failure,
  • Hereditary inclusion body myopathy with early respiratory failure,
  • MPRM,
  • HIBM-ERF,
  • ORDO:178464,
  • MFM-titinopathy,
  • OMIM:603689,
  • GARD:12591,
  • MFM9,
  • Edstrom myopathy,
  • Myofibrillar myopathy-titinopathy,
  • 603689,
  • HMERF
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