[Segmental dystonia and mitochondrial encephalomyopathy].
A 55 year-old male experienced a dystonia of the right upper limb followed by a ptosis with complete ophthalmoplegia and cataract. He developed a sensory neuropathy and personality changes. Ragged-red fibers were found on muscle biopsy. There was a major defect in complex III and IV activity.
Donnet
A
A
Clinique de Neurologie, CRMBM-CNRS Faculté de Médecine, Marseille.
Guinot
H
H
Pellissier
J F
JF
Desnuelle
C
C
Cozzone
P
P
Bouchacourt
M
M
Khalil
R
R
D001763:Blepharoptosis / Q000150:complications* / Q000473:pathology; D004421:Dystonia / Q000150:complications* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000473:pathology*; D009135:Muscular Diseases / Q000150:complications* / Q000473:pathology; D009886:Ophthalmoplegia / Q000150:complications* / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000473:pathology
Dystonie segmentaire et encéphalomyopathie mitochondriale.