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Article

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

Brain : a journal of neurology - 1 May 2012

Steenweg Marjan E, Ghezzi Daniele, Haack Tobias, Abbink Truus E M, Martinelli Diego, van Berkel Carola G M, Bley Annette, Diogo Luisa, Grillo Eugenio, Te Water Naudé Johann, Strom Tim M, Bertini Enrico, Prokisch Holger, van der Knaap Marjo S, Zeviani Massimo

Abstract excerpt

In the large group of genetically undetermined infantile-onset mitochondrial encephalopathies, multiple defects of mitochondrial DNA-related respiratory-chain complexes constitute a frequent biochemical signature. In order to identify responsible genes, we used exome-next-generation sequencing in a selected cohort of patients with this biochemical signature. In an isolated patient, we found two mutant alleles for...

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Identifiers

PMID: 22492562
DOI: 10.1093/brain/aws070

Genes

EARS2

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Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.Semantic proximity Read ↗

Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.Semantic proximity Read ↗

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