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Clinical features of A3243G mitochondrial tRNA mutation.

Brain & development - 1 Oct 2004

Chae Jong Hee, Hwang Hee, Lim Byung Chan, Cheong Hae Il, Hwang Yong Seung, Kim Ki Joong

Abstract excerpt

Mitochondrial cytopathy is a heterogeneous group of disorders with a wide range of clinical features. To evaluate the incidence and clinical heterogeneity of A3243G mitochondrial tRNA mutation in the Korean population, we evaluated patients who were clinically suggestive of having mitochondrial encephalomyopathy. Eighty-five patients were included in this study. All showed clinical features of mitochondrial...

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PMID: 15351082
DOI: 10.1016/j.braindev.2004.01.002

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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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