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
Rok vydání:	1993
Předmět:	Adult Male Death Sudden RNA Transfer Leu Mitochondrial Encephalomyopathies Humans Point Mutation Female Middle Aged DNA Mitochondrial Pedigree
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
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::c3126ca0e62b7b2cd436764ecdb50a41 https://pubmed.ncbi.nlm.nih.gov/8265770 Zobrazit plný text záznamu