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Pediatr Neurol. 1996 Sep;15(2):145-9.

Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death.

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H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University, New York, USA.


We describe an A-to-G transition at nucleotide 10044 in the tRNA(Gly) 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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