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LYRM7 Mutations Cause a Multifocal Cavitating Leukoencephalopathy with Distinct...

Dallabona, C; Abbink, TEM; Carrozzo, R; Torraco, A; Legati, A; van Berkel, CGM; Niceta, M; Langella, T; Verrigni, D; Rizza, T; Diodato, D; Piemonte, F

This study focused on the molecular characterization of patients with leukoencephalopathy associated with a specific biochemical defect of mitochondrial respiratory chain complex III, and explores the impact of a distinct magnetic resonance imaging pattern of leukoencephalopathy to detect biallelic mutations in LYRM7 in patients with biochemically unclassified leukoencephalopathy. 'Targeted resequencing' of a c...

Date: 2016   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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