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Article

Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation.

Journal of child neurology - 1 Jun 2000

Graf W D, Marin-Garcia J, Gao H G, Pizzo S, Naviaux R K, Markusic D, Barshop B A, Courchesne E, Haas R H

Abstract excerpt

We report a family with a heterogeneous group of neurologic disorders associated with the mitochondrial DNA G8363A transfer ribonucleic acid (RNA)Lys mutation. The phenotype of one child in the family was consistent with autism. During his second year of life, he lost previously acquired language skills and developed marked hyperactivity with toe-walking, abnormal reciprocal social interaction, stereotyped...

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Identifiers

PMID: 10868777
DOI: 10.1177/088307380001500601

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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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