Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

Brain. 2021 Oct 22;144(9):e74. doi: 10.1093/brain/awab238.

Federica Invernizzi¹, Andrea Legati¹, Alessia Nasca¹, Eleonora Lamantea¹, Barbara Garavaglia¹, Mirjana Gusic^{2

3}, Robert Kopajtich^{2

3}, Holger Prokisch^{2

3}, Massimo Zeviani^{4

5}, Costanza Lamperti¹, Daniele Ghezzi^{1

6}

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.

No abstract available

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