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A T C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disease, Departments of Neurology (Drs. Santorelli, Shanske, Schon, a n d DiMauro)
Genetics and Development, Columbia-Presbyterian Medical Center, New York, NY (Dr. Schon)
Division of Medical Genetics, Children's Hospital of Los Angeles, Los Angeles, CA. (Drs. Jain and Tick).

Article abstract A 5-year-old child with clinical and radiologic evidence of Leigh syndrome (LS) showed a TC mutation at position nt 8993 in the mitochondrial DNA (instead of the more common TG substitution), resulting in an amino acid change from a highly conserved leucine to proline in subunit 6 of mitochondrial ATPase. The mutation was heteroplasmic and maternally inherited, and was present in high percentages in multiple tissues. This finding documents genetic heterogeneity of the ATPase 6 gene mutation associated with LS.

Address correspondence and reprint requests to Dr. S. DiMauro, Columbia University, College of Physicians & Surgeons, 630 West 168^th Street, Room 4-420, New York, NY 10032.

Supported by center grant NS11766 from the National Institutes of Health, by grants from the Muscular Dystrophy Association, and by a generous donation from Libero and Graziella Danesi.

Received August 31, 1993. Accepted for publication in final form November 8,1993.

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