[A case of mitochondrial myopathy in a family with oculo-pharyngeal myopathy].
We report the case of a patient with mitochondrial lesions, an old woman belonging by her father and mother to a big family with oculopharyngeal muscular dystrophy. Four patients of this family have typical intranuclear tubulo-filamentous inclusions.
Goas
J Y
JY
Service de Neurologie, CHRU Brest.
Leroy
J P
JP
Mocquard
Y
Y
Rouhart
F
F
D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D009886:Ophthalmoplegia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010608:Pharyngeal Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology
Un cas de myopathie mitochondriale dans une famille de myopathie oculo-pharyngée.