Genetics:
mitochondrial DNA mutation
Diagnosis:
A form of progressive myoclonic epilepsy
Clinical features:
Myopathy, neuropathy
Deafness
Lipomas
Optic atrophy
Myoclonus
Genetics:
Familial, sporadic, maternal
Mitochondrial DNA mutation
Pathology:
Ragged red fibres in muscle. Changes in Dentate nucleus & inferior olive