Mitochondrial neuropathy in pediatric patients carrying mtDNA, POLG1, SURF1, and PDHA1 mutations

Josef Finsterer, MD, PhD; Sinda Zarrouk-Mahjoub, PhD

doi:10.15520/jmbas.v6i9.150

Articles

Mitochondrial neuropathy in pediatric patients carrying mtDNA, POLG1, SURF1, and PDHA1 mutations

Josef Finsterer, MD, PhD

Krankenanstalt Rudolfstiftung, Messerli, Institute, Veterinary University of Vienna, Vienna
Sinda Zarrouk-Mahjoub, PhD

University of Tunis El Manar, Genomics Platform, Pasteur Institute of Tunis, Tunisia

pdf (inglês)

Published 2018-09-08 Issue v. 6 n. 9 (2018) Pages 146 Section Articles

10.15520/jmbas.v6i9.150

Resumo

see the pdf.

How to Cite

Josef Finsterer, MD, PhD, Sinda Zarrouk-Mahjoub, PhD (2018). Mitochondrial neuropathy in pediatric patients carrying mtDNA, POLG1, SURF1, and PDHA1 mutations. Journal of Medical Biomedical and Applied Sciences , v. 6 n. 9 (2018) , 146 . https://doi.org/10.15520/jmbas.v6i9.150

Article information

DOI 10.15520/jmbas.v6i9.150

Published 2018-09-08

Issue v. 6 n. 9 (2018)

Pages 146

Section Articles

Como Citar

Mitochondrial neuropathy in pediatric patients carrying mtDNA, POLG1, SURF1, and PDHA1 mutations. (2018). Journal of Medical Biomedical and Applied Sciences, 6(9), 146. https://doi.org/10.15520/jmbas.v6i9.150

Baixar Citação

Artigos mais lidos pelo mesmo(s) autor(es)

Josef Finsterer, MD, PhD, Left ventricular hypertrabeculation /noncompaction in 3-HMG coenzyme A lyase deficiency , Journal of Medical Biomedical and Applied Sciences: v. 6 n. 8 (2018)
Josef Finsterer, MD, PhD, Sinda Zarrouk Mahjoub, PhD, Riboflavin Is Ineffective For Maternally Inherited Mitochondrial Disease , Journal of Medical Biomedical and Applied Sciences: v. 6 n. 6 (2018)
Josef Finsterer, MD, PhD, Sinda Zarrouk-Mahjoub, PhD, Does 3D pASP truly reflect hyperperfusion in stroke-like lesions? , Journal of Medical Biomedical and Applied Sciences: v. 6 n. 7 (2018)
Josef Finsterer, MD, PhD, OCT-angiography is inappropriate to demonstrate causality of peripapillary hypodensity in LHON , Journal of Medical Biomedical and Applied Sciences: v. 6 n. 12 (2018)
Josef Finsterer, MD, PhD, Concepción Maeztu, MD, PhD, MELAS and its peculiarities , Journal of Medical Biomedical and Applied Sciences: v. 6 n. 10 (2018)
Josef Finsterer, MD, PhD, Sinda Zarrouk-Mahjoub, PhD, Mitochondrial Multiorgan Disorder Syndrome (Mimods) Due To Mutations In The Slc25a46 Gene , Journal of Medical Biomedical and Applied Sciences: v. 6 n. 6 (2018)
Josef Finsterer, MD, PhD, Phenotypic variability of HIBCH deficiency , Journal of Medical Biomedical and Applied Sciences: v. 6 n. 10 (2018)
Josef Finsterer, MD, PhD, Influences on genotype/phenotype correlations in mtDNA-related Leigh syndrome are heterogeneous , Journal of Medical Biomedical and Applied Sciences: v. 6 n. 11 (2018)
Josef Finsterer, MD, PhD, Genetic confirmation of dysferlinopathy is required before attributing obsessive compulsive disorder to Myoshi myopathy , Journal of Medical Biomedical and Applied Sciences: v. 6 n. 11 (2018)
Josef Finsterer, MD, PhD, Sinda Zarrouk-Mahjoub, PhD, Phenotypic Spectrum And Age Distribution of SLC25A4 Mutations , Journal of Medical Biomedical and Applied Sciences: v. 6 n. 7 (2018)

> >>