Pulmonary hypertension in mitochondrial disorders

Brain and Development

Volumn 35, Issue 5, 2013, Pages 466-

  Finsterer, Josef ^a,b   Zarrouk Mahjoub, Sinda ^c  

^a DANUBE UNIVERSITY KREMS   (Austria)

^b KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

^c UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; UBIQUINONE;

CARDIOMEGALY; CARNITINE DEFICIENCY; CONGESTIVE CARDIOMYOPATHY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ECHOCARDIOGRAPHY; GENE MUTATION; HEART LEFT VENTRICLE FAILURE; HEART LEFT VENTRICLE FUNCTION; HEART RIGHT VENTRICLE FUNCTION; HETEROPLASMY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LETTER; MELAS SYNDROME; PULMONARY HYPERTENSION;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERTENSION, PULMONARY; MALE; MITOCHONDRIAL DISEASES; POINT MUTATION;

EID: 84875897049     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.07.015     Document Type: Letter

References (5)

1. Hung P.C., Wang H.S., Chung H.T., Hwang M.S., Ro L.S. Pulmonary hypertension in a child with mitochondrial A3243G point mutation. Brain Dev 2012, 34:866-868.
2. Finsterer J. Primary pulmonary hypertension as a manifestation of adult multi-system mitochondrial disorder. Yonsei Med J 2009, 50:307-308.
3. Navarro-Sastre A., Tort F., Stehling O., Uzarska M.A., Arranz J.A., Del Toro M., et al. A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet 2011, 89:656-667.
4. Sproule DM, Dyme J, Coku J, de Vinck D, Rosenzweig E, Chung WK et al. Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G). J Inherit Metab Dis 2008, in press. doi: . doi:10.1007/s10545-007-0735-3.
5. Finsterer J., Stöllberger C., Fazio G. Neuromuscular disorders in left ventricular hypertrabeculation/noncompaction. Curr Pharm Des 2010, 16:2895-2904.