Epilepsy in MT ‐ ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy-Reference-Cited by-同舟云学术

Epilepsy in MT ‐ ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy

Published:2021-01-21 Issue:3 Volume:8 Page:704-710
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann. Clin. Transl. Neurol.

Author:

Licchetta Laura¹²^ORCID,Ferri Lorenzo²,La Morgia Chiara¹²,Zenesini Corrado¹,Caporali Leonardo¹^ORCID,Lucia Valentino Maria¹²,Minardi Raffaella¹,Fulitano Daniela³,Di Vito Lidia¹,Mostacci Barbara¹,Alvisi Lara¹²,Avoni Patrizia¹²,Liguori Rocco¹²,Tinuper Paolo¹²,Bisulli Francesca¹²^ORCID,Carelli Valerio¹²

Affiliation:

1. IRCCS Istituto delle Scienze Neurologiche di BolognaFull Member of the ERN EpiCARE Bologna Italia

2. Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italia

3. Neurology Unit Rovigo Italy

Funder

Ministero della Salute

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51259

Reference16 articles.

1. Heteroplasmic mtDNA mutation (T‐G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high;Tatuch Y;Am J Hum Genet,1992

2. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy;Holt IJ;Am J Hum Genet,1990

3. Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome

4. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

5. ThorburnDR RahmanJ RahmanS.Mitochondrial DNA‐Associated Leigh Syndrome and NARP.2003Oct 30 [Updated 2017 Sep 28]. In: Adam MP Ardinger HH Pagon RA et al. Oct 30 [Updated 2017 Sep 28]. In: Adam MP Ardinger HH Pagon RA

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