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Article

Diagnostic challenges of mitochondrial DNA disorders.

Mitochondrion - 1 Jan 2000

Wong Lee-Jun C

Abstract excerpt

Although mitochondrial disorders are increasingly being recognized, confirming a specific diagnosis remains a great challenge due to the genetic and clinical heterogeneity of the disease. The heteroplasmic nature of most pathogenic mitochondrial DNA mutations and the uncertainties of the clinical significance of novel mutations pose additional complications in making a diagnosis. Suspicion of mitochondrial...

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PMID: 17276740
DOI: 10.1016/j.mito.2006.11.025

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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