LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

doi:10.1093/brain/awv392

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Article

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

Brain : a journal of neurology - 1 Mar 2016

Dallabona Cristina, Abbink Truus E M, Carrozzo Rosalba, Torraco Alessandra, Legati Andrea, van Berkel Carola G M, Niceta Marcello, Langella Tiziana, Verrigni Daniela, Rizza Teresa, Diodato Daria, Piemonte Fiorella, Lamantea Eleonora, Fang Mingyan, Zhang Jianguo, Martinelli Diego, Bevivino Elsa, Dionisi-Vici Carlo, Vanderver Adeline, Philip Sunny G, Kurian Manju A, Verma Ishwar C, Bijarnia-Mahay Sunita, Jacinto Sandra, Furtado Fatima, Accorsi Patrizia, Ardissone Anna, Moroni Isabella, Ferrero Ileana, Tartaglia Marco, Goffrini Paola, Ghezzi Daniele, van der Knaap Marjo S, Bertini Enrico

Abstract excerpt

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...

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Identifiers

PMID: 26912632
DOI: 10.1093/brain/awv392

Genes

LYRM7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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