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- Be47655cbf9cee5a803b1ad44dadba885 hasDbXref "Orphanet:593" @default.
- Be47655cbf9cee5a803b1ad44dadba885 type Axiom @default.
- Be47655cbf9cee5a803b1ad44dadba885 annotatedProperty IAO_0000115 @default.
- Be47655cbf9cee5a803b1ad44dadba885 annotatedSource MONDO_0018943 @default.
- Be47655cbf9cee5a803b1ad44dadba885 annotatedTarget "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." @default.