Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3-Reference-Cited by-同舟云学术

Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

Published:2021-06-24 Issue:9 Volume:144 Page:e74-e74
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Invernizzi Federica¹,Legati Andrea¹,Nasca Alessia¹,Lamantea Eleonora¹^ORCID,Garavaglia Barbara¹,Gusic Mirjana²³,Kopajtich Robert²³,Prokisch Holger²³,Zeviani Massimo⁴⁵,Lamperti Costanza¹,Ghezzi Daniele¹⁶^ORCID

Affiliation:

1. Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy

2. Institute of Human Genetics, School of Medicine, Technische Universität München, 81675 Munich, Germany

3. Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany

4. Department of Neurosciences, University of Padova, 35128 Padova, Italy

5. Venetian Institute of Molecular Medicine, 35128 Padova, Italy

6. Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy

Funder

BMBF

Italian MoH

Horizon 2020

European Joint Programme on Rare Diseases

ERA PerMed project PerMiM

German Network for Mitochondrial Disorders

Center for the Study of Mitochondrial Pediatric Diseases funded

Luisa Mariani Foundation

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awab238/40219607/awab238.pdf

Reference10 articles.

1. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy;Bonora;Brain,2021

2. Double strand break rejoining by mammalian mitochondrial extracts;Lakshmipathy;Nucleic Acids Res,1999

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