A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.
Ann Neurol
; 52(2): 237-9, 2002 Aug.
Article
em En
| MEDLINE
| ID: mdl-12210798
ABSTRACT
Recently, a homozygous single-nucleotide deletion in exon 2 of the deoxyguanosine kinase gene (DGUOK) was identified as the disease-causing mutation in 3 apparently unrelated Israeli-Druze families with depleted hepatocerebral mitochondrial DNA. We have discovered a novel homozygous nonsense mutation in exon 3 of DGUOK (313C-->T) from a patient born to nonconsanguineous German parents. This finding shows that mutations in DGUOK causing mitochondrial DNA depletion are not confined to a single ethnic group.
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Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
Fosfotransferases (Aceptor do Grupo Álcool)
/
Códon sem Sentido
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Infant
/
Male
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article