mitochondrial DNA depletion syndrome 11
Jump to navigation
Jump to search
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