Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy

BACKGROUND AND PURPOSE: The recent advances in genetics have helped to unravel the cause of many dystonia syndromes. With the broadening spectrum of genetically defined dystonia syndromes, distinct clinico‐radiological phenotypes are a welcome handle to guide the diagnostic work‐up. METHODS: Exome s...

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Publicat a:Eur J Neurol
Autors principals: Balint, B., Charlesworth, G., Stamelou, M., Carr, L., Mencacci, N. E., Wood, N. W., Bhatia, K. P.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Short Communications
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6767441/
https://ncbi.nlm.nih.gov/pubmed/30897263
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ene.13956
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