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Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing

P V S Souza1, Thiago Bortholin1, Carlos Alberto Castro Teixeira1

  • 1Division of Neuromuscular Diseases, Department of Neurology, Department of Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.

Mitochondrion
|July 5, 2019
PubMed

Keywords:
Leigh syndromeMitochondrial DNA maintenanceMitochondrial disordersWhole exome sequencing

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