Mitochondrial DNA depletion

2002166 citationsJournal Article

Authors

Michelangelo Mancuso · University of Pisa

Leonardo Salviati · University of Pisa

Sabrina Sacconi · University of Pisa

David Otaegui · University of Pisa

Pilar Camaño · University of Pisa

Alberto Marina · University of Pisa

Sandra R. Bacman ·

Abstract

These results show that the clinical expression of TK2 mutations is not limited to myopathy and that the myopathic form of MDS is genetically heterogeneous.

Topics & Keywords

Mitochondrial Function and Pathology Metabolism and Genetic Disorders Glycogen Storage Diseases and Myoclonus

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Neurology

Volume 59, Issue 8, pp. 1197-1202

DOI: 10.1212/01.wnl.0000028689.93049.9a

Field-Weighted Citation Impact: 5.23