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Article

Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.

Neuropediatrics - 1 Jan 2016

Kevelam Sietske H, Klouwer Femke C C, Fock Johanna M, Salomons Gajja S, Bugiani Marianna, van der Knaap Marjo S

Abstract excerpt

Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is caused by autosomal recessive EARS2 mutations. Onset is most often in infancy, but in severe cases in the neonatal period. Patients typically have magnetic resonance imaging (MRI) signal abnormalities involving the thalamus, brainstem, and deep cerebral white matter. Most signal abnormalities resolve, but in severe cases at the...

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Source

Identifiers

PMID: 26619324
DOI: 10.1055/s-0035-1568987

Genes

EARS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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