A case of cardiomyopathy showing progression from the hypertrophic to the dilated form - Association of Mt8348A -> G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes

Citation
F. Terasaki et al., A case of cardiomyopathy showing progression from the hypertrophic to the dilated form - Association of Mt8348A -> G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes, JPN CIRC J, 65(7), 2001, pp. 691-694
Citations number
17
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Cardiovascular & Respiratory Systems","Cardiovascular & Hematology Research
Journal title
JAPANESE CIRCULATION JOURNAL-ENGLISH EDITION
ISSN journal
0047-1828 → ACNP
Volume
65
Issue
7
Year of publication
2001
Pages
691 - 694
Database
ISI
SICI code
0047-1828(200107)65:7<691:ACOCSP>2.0.ZU;2-C
Abstract
This report describes a case of cardiomyopathy with a novel point mutation of mitochondrial DNA coding lysine tRNA in association with severe ultrastr uctural alterations of the mitochondria in the cardiomyocytes. Abnormalitie s of energy production and/or abnormal protein synthesis because of the mut ation of mitochondrial DNA may have played an important role in the pathoge nesis of this case, which showed severe cardiomyocyte degeneration and dete rioration from hypertrophic cardiomyopathy to severe dilated cardiomyopathy .