Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease

BACKGROUND: GTP cyclohydrolase I (GCH1) mutations are the commonest cause of Dopa-responsive dystonia (DRD). Clinical phenotypes can be broad, even within a single family. METHODS: We present clinical, genetic and functional imaging data on a British kindred in which affected subjects display phenot...

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Vydáno v:Parkinsonism Relat Disord
Hlavní autoři: Lewthwaite, A.J., Lambert, T.D., Rolfe, E.B., Olgiati, S., Quadri, M., Simons, E.J., Morrison, K.E., Bonifati, V., Nicholl, D.J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier Science 2015
Témata:
Short Communication
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4379065/
https://ncbi.nlm.nih.gov/pubmed/25634433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.parkreldis.2015.01.004
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