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G transition at nucleotide 8344 of mtDNA ("MERRF mutation")
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases; the Department of Neurology (Drs. Silvestri, Ciafaloni, Santorelli, Shanske, and DiMauro), Columbia-Presbyterian Medical Center, New York, NY; the Department of Neurology (DR. Servidei), Catholic University, Rome; and the Department of Neuropathology (Drs. Graf and Sumi), University of Washington, Seattle, WA.
We looked for the A 
G transition at position 8344 of mtDNA in 150 patients, most of them with diagnosed or suspected mitochondrial disease, to assess the specificity of this mutation for the MERRF phenotype, to define the clinical spectrum associated with the mutation, and to study the relationship between percentage of mutation in muscle and clinical severity. Our results confirm the high correlation between the A G transition at position 8344 and the MERRF syndrome, but they also show that this mutation can be associated with other phenotypes, including Leigh's syndrome, myoclonus or myopathy with truncal lipomas, and proximal myopathy. The absence of the mutation in four typical MERRF patients suggests that other mutations in the tRNALys gene, or elsewhere in the mitochondrial DNA, can produce the same phenotype.
Address correspondence and reprint requests to Dr. S. DiMauro, Columbia University College of Physicians & Surgeons, 630 West 168th Street, Room 4-420, New York, NY 10032.
Supported by center grant NS11766 from the National Institute of Health; by grants from the Muscular Dystrophy Association and UILDM-Telethon Italia 90, and by a generous donation from Libero and Graziella Danesi. G.S. was supported by a fellowship from UILDM, Sezione Laziale "Giulia Testore," and by grants from the Neurological Institute of the Catholic University, Rome. F.M.S. was supported by the Italian Ministry of Education. E.C. was supported by a fellowship from the Centro "Dino Ferrari," Milan.
Received July 29, 1992. Accepted for publication in final form October 30, 1992.
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