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myopathy with abnormal lipid metabolism
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive, inborn error of metabolism characterized by variable mitochondrial dysfunction. Clinical features range from severe cardiac and respiratory insufficiency with onset in infancy and resulting in early death, to mild muscle weakness with onset in adulthood. Some patients show significant improvement with riboflavin treatment. Analysis of skeletal muscle show multiple mitochondrial respiratory chain deficiency and a lipid storage myopathy in most patients.
Mondo Term and Equivalent IDs
MONDO:0009703: myopathy with abnormal lipid metabolism
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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.
OMIM:255100
MONDO:0009703
High level summary of knowledge for a disease, including descriptions and datasource references.