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

• GARD:12591
• OMIM:603689
• ORDO:178464

Ontology

Human Disease   ( DOID:0111188 )