Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue‐ or age‐related variation

Two pathogenic mitochondrial DNA mutations, a T‐to‐G substitution (8993T>G) and a T‐to‐C substitution (8993T>C), at nucleotide 8993 have been reported. We describe 13 pedigrees with mitochondrial DNA mutations at nucleotide 8993; 10 pedigrees with the 8993T>G mutation and three with the 899...

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