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Article

Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys.

Neuromuscular disorders : NMD - 1 Apr 2009

Erol I, Alehan F, Horvath R, Schneiderat P, Talim B

Abstract excerpt

We describe a patient with acute combined demyelinating disease of the central and peripheral nervous systems associated with the A8344G mutation in the mitochondrial tRNA lysine gene. A 7-year-old boy presented with acute onset of palpitations, tinnitus, ataxia, bilateral sixth nerve palsy, and flaccid quadriparesis. Serum creatine kinase and lactate were mildly increased. Electromyography showed demyelinating...

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Source

Identifiers

PMID: 19269823
DOI: 10.1016/j.nmd.2009.01.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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