Article
Clinical spectrum of the MELAS mutation in a large pedigree.
Acta neurologica Scandinavica - 1 Nov 1995
Damian M S, Seibel P, Reichmann H, Schachenmayr W, Laube H, Bachmann G, Wassill K H, Dorndorf W
Abstract excerpt
INTRODUCTION: MELAS is most often due to an mentally transmitted A-G transition mutation of mitochondrial DNA (mtDNA) at position 3243. In this study we report on the clinical spectrum associated with the mutation in the largest family reported so far. PATIENTS AND METHODS: In a family with three MELAS cases we identified 47 persons at risk for the mutation; sufficient data was available on 29. Mitochondrial...
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