Elsevier

Pediatric Neurology

Volume 15, Issue 2, September 1996, Pages 145-149
Pediatric Neurology

Case report
Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death,☆☆

https://doi.org/10.1016/0887-8994(96)00163-4Get rights and content
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Abstract

We describe an A-to-G transition at nucleotide 10044 in the tRNAGly gene of mitochondrial DNA in a sibship in which the proband died at age 8 years after a severe encephalopathy, a brother died of sudden and unexpected death, and the other six siblings had a combination of symptoms, including apparent life-threatening events and gastroesophageal reflux. This novel mutation was very abundant (>90%) in liver and muscle of the proband and in several tissues, including blood, from his affected siblings (range 91–99%) but was less abundant in blood from the asymptomatic mother (88%) and maternal grandmother (85%). Our findings further enlarge the spectrum of clinical presentations associated with mitochondrial DNA mutations.

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Presented in part at the 1995 American Pediatric Society—Society for Pediatric Research Annual Meeting, May 9, 1995, San Diego, California.

☆☆

This work was supported in part by Program Project No. P01 HD32062 from the National Institute of Child Health and Human Development (NICHD), by grants from the Muscular Dystrophy Association, and by a scholarship from Telethon-Italia (to F.M.S.).