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A Case of Sporadic Infantile Histiocytoid Cardiomyopathy Caused by the A8344G (MERRF) Mitochondrial DNA Mutation

✍ Scribed by H. D. Vallance; G. Jeven; D. C. Wallace; M. D. Brown

Publisher: Springer
Year: 2004
Tongue: English
Weight: 147 KB
Volume: 25
Category: Article
ISSN: 0172-0643
DOI: 10.1007/s00246-003-0446-y

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Myoclonus epilepsy and ragged-red fibers syndrome (MERRF) is caused by a heteroplasmic mutation at nucleotide 8344 (A8344G) of the tRNA(Lys) gene of mitochondrial DNA (mtDNA). This mutation impairs mitochondrial protein synthesis and causes a respiratory chain dysfunction. The risk for transmission