NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

OBJECTIVE: To identify the mutated gene in a group of patients with an unclassified heritable white matter disorder sharing the same, distinct MRI pattern. METHODS: We used MRI pattern recognition analysis to select a group of patients with a similar, characteristic MRI pattern. We performed whole-e...

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Autores principales: Kevelam, Sietske H., Rodenburg, Richard J., Wolf, Nicole I., Ferreira, Patrick, Lunsing, Roelineke J., Nijtmans, Leo G., Mitchell, Anne, Arroyo, Hugo A., Rating, Dietz, Vanderver, Adeline, van Berkel, Carola G.M., Abbink, Truus E.M., Heutink, Peter, van der Knaap, Marjo S.
Formato: Artigo
Lenguaje:Inglês
Publicado: Lippincott Williams & Wilkins 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3662327/
https://ncbi.nlm.nih.gov/pubmed/23553477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31828f1914
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