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Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases.

Experimental & molecular medicine - 30 Jun 2010

Choi Byung-Ok, Hwang Jung Hee, Cho Eun Min, Jeong Eun Hye, Hyun Young Se, Jeon Hyeon Jeong, Seong Ki Min, Cho Nam Soo, Chung Ki Wha

Abstract excerpt

Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make the exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mtDNA mutations in 61 Korean unrelated families (or isolated patients) with MELAS or MERRF. In particular, the mtDNA sequences were completely determined for 49 patients. From the mutational analysis of mtDNA obtained from...

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Identifiers

PMID: 20440095
DOI: 10.3858/emm.2010.42.6.046
PMCID: PMC2892598

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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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