Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA.
Funct Neurol
; 21(1): 39-41, 2006.
Article
em En
| MEDLINE
| ID: mdl-16735000
ABSTRACT
Kearns-Sayre syndrome (KSS) is a mitochondrial encephalomyopathy characterized by progressive external ophthalmoplegia (PEO), pigmentary retinopathy and onset before the age of 20 years. Cerebellar ataxia, as well as short stature and increased protein content in the cerebrospinal fluid, are frequent additional symptoms. A single large mitochondrial (mt) DNA deletion of 4,977 bp is the most common molecular defect in KSS. Recently, different mutations have also been associated with incomplete, KSS-like phenotypes. We describe the unusual clinical presentation of a patient carrying a novel 1,814-bp deletion of mtDNA. In contrast with typical KSS, the clinical picture of this patient did not include either palpebral ptosis or PEO and was dominated by an ataxic syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
Ataxia Cerebelar
/
Síndrome de Kearns-Sayre
/
Deleção de Genes
/
Doenças Mitocondriais
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Funct Neurol
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Itália
País de publicação:
IT
/
ITALIA
/
ITALY
/
ITÁLIA