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
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- GARD:12591
- MIM:603689
- ORDO:178464
- Ontology
- Human Disease ( DOID:0111188 )
- is a type of
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Genes Involved
Zebrafish Models