Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid prot...

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Bibliographic Details
Main Authors: MARIE SUELY K.NAGAHASHI, CARVALHO ALZIRA A.S., FONSECA LUIZ FERNANDO, CARVALHO MARY S., REED UMBERTINA C., SCAFF MILBERTO
Format: Article
Language:English
Published: Academia Brasileira de Neurologia (ABNEURO) 1999-01-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
Kearns-Sayre syndrome
dystonia
mitochondrial DNA deletion
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600020

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