Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene
Autor: | M G, Sweeney, S, Bundey, M, Brockington, K R, Poulton, J B, Winer, A E, Harding |
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Rok vydání: | 1993 |
Předmět: | |
Zdroj: | The Quarterly journal of medicine. 86(11) |
ISSN: | 0033-5622 |
Popis: | A family exhibited maternal inheritance of a variable syndrome comprising ocular, neck and proximal upper limb weakness, psychiatric features, and sudden death. Of 15 definitely or probably affected individuals, 7 had died in early adult life, probably of respiratory failure. A novel point mutation of mitochondrial DNA, in a transfer RNA gene at position 3251, was detected in all living affected family members. |
Databáze: | OpenAIRE |
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