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Article

Fulminant respiratory muscle paralysis, an expanding clinical spectrum of mitochondrial A3243G tRNALeu mutation.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet - 1 Apr 2014

Amornvit Jakkrit, Pasutharnchat Nath, Pachinburavan Monvasi, Jongpiputvanich Sungkom, Joyjinda Yutthana

Abstract excerpt

Mitochondrial disease is a group of rare disorders, caused by mitochondrial dysfunction. They are usually the result of mutations of either mitochondrial DNA or nuclear DNA. A3243G transition in the tRNALeu is one the most frequent mutations of the mitochondrial DNA. Phenotypic expression of this mutation varies. The most well-recognized phenotype is Mitochondrial encephalomyopathy, lactic acidosis, and...

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PMID: 24964690

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