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Evaluation of MASSARRAY technique in detecting mitochondrial disease mutations.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2026

Chetu Nahuda, Onsod Preyaporn, Rerkamnuaychoke Budsaba, Siriboonpiputtana Teerapong, Chareonsirisuthigul Takol

Abstract excerpt

Mitochondrial diseases are caused by mutations in mitochondrial DNA (mtDNA), leading to impaired energy production, cellular dysfunction, and tissue damage. Accurate and efficient detection of mitochondrial DNA (mtDNA) mutations is crucial for diagnosis and patient management. This study aimed to evaluate the performance of MassARRAY in detecting mtDNA mutations compared to the routinely used MLPA technique. 34...

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PMID: 41525965
DOI: 10.1016/j.cca.2026.120820

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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