Výsledky vyhledávání - "Matilda, Ralph"

Sudden adult death syndrome in m.3243AG-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults

Autor: Yi Shiau, Ng, John P, Grady, Nichola Z, Lax, John P, Bourke, Charlotte L, Alston, Steven A, Hardy, Gavin, Falkous, Andrew G, Schaefer, Aleksandar, Radunovic, Saidi A, Mohiddin, Matilda, Ralph, Ali, Alhakim, Robert W, Taylor, Robert, McFarland, Douglass M, Turnbull, Gráinne S, Gorman

Publikováno v: European Heart Journal

Translational perspective We report striking respiratory chain deficiency and high levels of the m.3243A>G mitochondrial DNA mutation in cardiac muscle from two young asymptomatic adults found dead-in-bed. Our findings suggest this is an unrecognized

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::14aa1a449c99d06f28f3bc54c6583f2b
https://pubmed.ncbi.nlm.nih.gov/26188002

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