Article
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
Neurology - 23 Apr 2013
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
Abstract excerpt
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-exome sequencing to identify the mutated gene. We examined patients' fibroblasts for biochemical consequences of the...
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