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myofibrillar myopathy 9
Summary
- Synonym
-
- Edstrom myopathy
- HIBM-ERF
- HMERF
- Hereditary inclusion body myopathy with early respiratory failure
- MFM-titinopathy
- MFM9
- MPRM
- Myofibrillar myopathy-titinopathy
- autosomal dominant distal myopathy with early respiratory failure
- hereditary myopathy with early respiratory failure
- myofibrillar myopathy 9 with early respiratory failure
- 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.
- Super Class
- myofibrillar myopathy
External Links
- Disease Ontology
- DOID:0111188
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
