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early-onset myopathy with fatal cardiomyopathy
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive, early-onset muscular disorder characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Skeletal muscle biopsies show minicore-like lesions with mitochondrial depletion and sarcomere disorganization, centralized nuclei, and type 1 fiber predominance. Dystrophic changes become apparent in the second decade. Cardiac muscle biopsies show disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. Sudden death may occurr due to cardiomyopathy.
Mondo Term and Equivalent IDs
MONDO:0012714: early-onset myopathy with fatal cardiomyopathy
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C567129
OMIM:611705
Orphanet:289377
SCTID:702343002
UMLS:C2673677
MONDO:0012714
High level summary of knowledge for a disease, including descriptions and datasource references.