Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome-Reference-Cited by-同舟云学术

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome

Published:2013-01-30 Issue:6 Volume:36 Page:929-937
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Karkucinska-Wieckowska Agnieszka,Trubicka Joanna,Werner Bozena,Kokoszynska Katarzyna,Pajdowska Magdalena,Pronicki Maciej,Czarnowska Elzbieta,Lebiedzinska Magdalena,Sykut-Cegielska Jolanta,Ziolkowska Lidia,Jaron Weronika,Dobrzanska Anna,Ciara Elzbieta,Wieckowski Mariusz R.,Pronicka Ewa

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-013-9584-4

Reference45 articles.

1. Arnold I, Pfeiffer K et al (1998) Yeast mitochondrial F1F0-ATP synthase exist as a dimmer-specific subunits. EMBO J 17:7170–7178

2. Bancroft JD, Gamble M (2001) Theory and practice of histological techniques, 5th edn. Churchill Livingstone, Edinburgh

3. Barth PG, Scholte HR et al (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 62:327–355

4. Barth PG, Valianpour F et al (2004) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet 126A:349–354

5. Besley GTN, Lendon M et al (1995) Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria. J Inherit Metab Dis 18:221–223

Cited by 24 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis;Mitochondrial Diseases;2023

2. Emerging Hallmarks of Mitochondrial Biochemistry in Cardiac Trabecular Morphogenesis and Left Ventricular Noncompaction (LVNC);New Insights on Cardiomyopathy [Working Title];2022-12-20

3. Insights into complex I assembly: Function of NDUFAF1 and a link with cardiolipin remodeling;Science Advances;2022-11-18

4. Myelodysplastic syndrome in a patient with Barth syndrome (3‐methylglutaconic aciduria type II);Pediatric Blood & Cancer;2022-10-02

5. Left Ventricular Noncompaction Is Associated with Valvular Regurgitation and a Variety of Arrhythmias;Journal of Cardiovascular Development and Disease;2022-02-02