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mitochondrial DNA depletion syndrome 11
Pathology:
- mitochondrial disorder
- skeletal muscle biopsies show deletion & depletion of mitochondrial DNA with variable defects in respiratory chain enzyme activities
Genetics:
- autosomal recessive
- associated with defects in MGME1
Clinical manifestations:
- onset in childhood or adulthood
- progressive external ophthalmoplegia
- muscle weakness & muscle atrophy
- exercise intolerance
- respiratory insufficiency due to muscle weakness
- variable features include
- spinal deformity
- emaciation
- cardiac abnormalities
General
myopathic mitochondrial DNA depletion syndrome
Database Correlations
OMIM 615084
References
OMIM :accession 615084