myofibrillar myopathy
http://purl.obolibrary.org/obo/MONDO_0018943
Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients. [ Orphanet:593 ]
Term info
- UMLS:C2678065 (Orphanet:593)
- NCIT:C83009 (MONDO:equivalentTo)
- OMIMPS:601419 (MONDO:equivalentTo)
- MESH:C580316 (MONDO:equivalentTo)
- ICD9:359.89 (MONDO:relatedTo)
- Orphanet:593 (MONDO:equivalentTo)
- GARD:0010529 (MONDO:equivalentTo)
- HP:0003715 (MONDO:otherHierarchy)
- SCTID:699269005 (MONDO:equivalentTo)
- DOID:0080307 (MONDO:equivalentTo)
disease_grouping, clingen, ordo_group_of_disorders
myofibrillar myopathy (disease)
Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.
http://identifiers.org/snomedct/699269005, http://purl.obolibrary.org/obo/NCIT_C83009, http://linkedlifedata.com/resource/umls/id/C2678065, http://purl.obolibrary.org/obo/DOID_0080307, http://purl.obolibrary.org/obo/Orphanet_593, http://identifiers.org/mesh/C580316, https://omim.org/phenotypicSeries/PS601419
myofibrillar myopathy (disease), myofibrillar myopathy
Protein surplus myopathy (former name), Zaspopathy (type), Alpha Beta crystallinopathy (type), desmin related myopathy (former name), myotilinopathy (type), myofibrillar myopathies, filaminopathy (type), desmin storage myopathy (former name), Desminopathy (type)
MONDO:0018943