Pediatric-Onset Dystonia Associated with Bilateral Striatal Necrosis and G14459A Mutation in a Korean Family: A Case Report

We describe a Korean family presenting with pediatric-onset, progressive, generalized dystonia with bilateral striatal necrosis and the homoplasmic G14459A mutation in the mitochondrial ND6 gene. The G14459A mutation has been reported in families presenting with Leber hereditary optic neuropathy (LH...

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Detalles Bibliográficos
Autores principales: Kim, In-Suk, Ki, Chang-Seok, Park, Ki-Jong
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800009/
https://www.ncbi.nlm.nih.gov/pubmed/20052369
http://dx.doi.org/10.3346/jkms.2010.25.1.180

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800009/
https://www.ncbi.nlm.nih.gov/pubmed/20052369
http://dx.doi.org/10.3346/jkms.2010.25.1.180

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