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JIMD Rep. 2020 Feb 06;52(1):11-16. doi: 10.1002/jmd2.12094. eCollection 2020 Mar.

Cavitating and tigroid-like leukoencephalopathy in a case of .

JIMD reports

Marianna Alagia, Gerarda Cappuccio, Annalaura Torella, Alessandra D'Amico, Federica Mazio, Alfonso Romano, Simona Fecarotta, Giorgio Casari, Vincenzo Nigro, Nicola Brunetti-Pierri

Affiliations

  1. Department of Translational Medicine Federico II University Naples Italy.
  2. Telethon Institute of Genetics and Medicine Naples Italy.
  3. Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania 'Luigi Vanvitelli' Naples Italy.
  4. Department of Advanced Biomedical Sciences Federico II University Naples Italy.
  5. Department of Neurosciences, Division of Neuroradiology Ospedale Santobono-Pausilipon Naples Italy.

PMID: 32154054 PMCID: PMC7052689 DOI: 10.1002/jmd2.12094

Abstract

Biallelic variants in nuclear gene

© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

Keywords: NDUFA2; leukodystrophy; mitochondrial

Conflict of interest statement

The authors report no disclosures relevant to the manuscript.

References

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