Manifestations of the mitochondrial A3243G mutation

International Journal of Cardiology

Volumn 137, Issue 1, 2009, Pages 60-62

  Finsterer, Josef ^a  

^a KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

Author keywords

Cardiac involvement; Cardiomyopathy; Genetics; Mitochondrial disorder

Indexed keywords

CARNITINE; MITOCHONDRIAL DNA; TRANSFER RNA; UBIQUINONE;

ARTICLE; BRAIN DISEASE; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EARLY DIAGNOSIS; GENE MUTATION; HEART ARRHYTHMIA; HEART DEATH; HEART DISEASE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MELAS SYNDROME; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL RESPIRATION; NUTRITIONAL DEFICIENCY; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; PRIORITY JOURNAL; SUDDEN DEATH; UBIQUINONE DEFICIENCY;

ADENOSINE; ADULT; DNA, MITOCHONDRIAL; GUANOSINE; HUMANS; MALE; MITOCHONDRIAL MYOPATHIES; MUTATION;

EID: 68949114323     PISSN: 01675273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijcard.2008.04.089     Document Type: Article

References (14)

1. Takahashi N., Shimada Y., Ishibashi Y., Yoshitomi H., Oyake N., Murakami Y., Nishino I., Nonaka I., Goto Y.I., and Kitamura J. Marked left ventricular hypertrophy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Int J Cardiol 129 (2008) e77-e80
2. Finsterer J. Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation. Acta Neurol Scand 116 (2007) 1-14
3. Finsterer J. Mitochondriopathies. Eur J Neurol 11 (2004) 163-186
4. Sarnat H.B., and Marín-García J. Pathology of mitochondrial encephalomyopathies. Can J Neurol Sci 32 (2005) 152-166
5. Finsterer J. Cerebrospinal-fluid lactate in adult mitochondriopathy with and without encephalopathy. Acta Med Austriaca 28 (2001) 152-155
6. Hsu P.C., Chu C.S., Lin T.H., Lu Y.H., Lee C.S., Lai W.T., and Sheu S.H. Adult-onset hypertrophic cardiomyopathy manifested as initial major presentation of mitochondrial disease with A-to-G 3243 tRNA (Leu(UUR)) point mutation. Int J Cardiol 129 (2008) 441-443
7. Bos J.M., Ommen S.R., and Ackerman M.J. Genetics of hypertrophic cardiomyopathy: one, two, or more diseases?. Curr Opin Cardiol 22 (2007) 193-199
8. Pignatelli R.H., McMahon C.J., Dreyer W.J., et al. Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation 108 (2003) 2672-2678
9. Finsterer J, Stöllberger C. Primary myopathies and the heart. Scand Cardiovasc J 2008;42:9-24.
10. Hara K., Sata T., and Shigematsu A. Anesthetic management for cardioverter-defibrillator implantation in a patient with Kearns-Sayre syndrome. J Clin Anesth 16 (2004) 539-541
11. Van Maldergem L., Trijbels F., DiMauro S., et al. Coenzyme Q-responsive Leigh's encephalopathy in two sisters. Ann Neurol 52 (2002) 750-754
12. Binienda Z., Przybyla-Zawislak B., Virmani A., and Schmued L. l-carnitine and neuroprotection in the animal model of mitochondrial dysfunction. Ann N Y Acad Sci 1053 (2005) 174-182
13. Koga Y., Akita Y., Nishioka J., et al. MELAS and l-arginine therapy. Mitochondrion 7 (2007) 133-139
14. Anselm I.A., and Darras B.T. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology 67 (2006) 1313