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π CustomizeMedical Overview of Mitochondrial DNA Deletion Syndrome With Progressive Myopathy
Sources citedA rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.
Classification & codes: GARD 0017518 · Orphanet ORPHA:352470 · OMIM 615156 · ICD-10 G71.3
Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β not medical advice.
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Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β not medical advice.