Ophthalmic involvement in myo-neuro-gastrointestinal encephalopathy syndrome.
Am J Ophthalmol
; 114(3): 322-8, 1992 Sep 15.
Article
em En
| MEDLINE
| ID: mdl-1524123
ABSTRACT
We studied the clinical, histopathologic, neuroradiologic, biochemical, and genetic profile of a patient with the myo-neuro-gastrointestinal encephalopathy syndrome, a recently described multisystem mitochondriopathy characterized by blepharoptosis and ophthalmoparesis. The patient had severe intestinal pseudo-obstruction and a mixed demyelinating and axonal neuropathy. Abnormal collections of mitochondria in nerve and muscle as well as diffuse white matter disease were present. Cytochrome oxidase activity in muscle mitochondria was reduced. No mitochondrial DNA deletions were detected.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Blefaroptose
/
Pseudo-Obstrução Intestinal
/
Oftalmoplegia
/
Doenças Desmielinizantes
/
Doenças Neuromusculares
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Am J Ophthalmol
Ano de publicação:
1992
Tipo de documento:
Article