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mitochondrial DNA deletion syndrome with progressive myopathy

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disorder characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression.
Mondo Term and Equivalent IDs
MONDO:0014062:  mitochondrial DNA deletion syndrome with progressive myopathy
DOID:0111519: 
Orphanet:352470: 
UMLS:C3554599: