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Article

Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene.

Journal of child neurology - 1 Nov 2010

Lin Jaime, Chiconelli Faria Eliete, Da Rocha Antônio José, Rodrigues Masruha Marcelo, Pereira Vilanova Luiz Celso, Scheper Gert C, Van der Knaap Marjo S

Abstract excerpt

Leukoencephalopathy with brainstem and spinal cord involvement and elevated brain lactate diagnosis is based on its highly characteristic pattern of abnormalities observed by magnetic resonance imaging and spectroscopy. Clinically, affected patients develop slowly progressive cerebellar ataxia, s...

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Source

Identifiers

PMID: 20501884
DOI: 10.1177/0883073810370897

Genes

DARS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20501884-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene.PMID 20501884Read ↗

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