Mitochondrial diseases: a nosological update.
Acta Neurol Scand
; 115(4): 211-21, 2007 Apr.
Article
em En
| MEDLINE
| ID: mdl-17376118
ABSTRACT
Mitochondrial diseases are disorders caused by impairment of the mitochondrial respiratory chain, characterized by clinical-genetic heterogeneity and frequent multisystemic involvement. It is difficult to establish a precise genotype/phenotype correlation and obtain a definitive nosology. Today's genetic classification distinguishes disorders caused by defects in the mitochondrial genome (sporadic or maternally-inherited) from disorders caused by defects in the nuclear genome (autosomally-inherited). We report an updated classification, briefly review the main clinical syndromes and describe the most recent genetic knowledge.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
Doenças Mitocondriais
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Acta Neurol Scand
Ano de publicação:
2007
Tipo de documento:
Article