A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.
AUTOR(ES)
Beyer, K
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1074112Documentos Relacionados
- Lessons from a remarkable family with dopa-responsive dystonia.
- Tyrosine hydroxylase and levodopa responsive dystonia.
- Hexosaminidase A deficiency presenting as juvenile progressive dystonia.
- A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.
- Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.