Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder

Biallelic variants in nuclear gene NDUFA2 have been reported so far in only three children with variable presentations including Leigh syndrome or leukoencephalopathy. Herein, we report a further female child affected by NDUFA2‐related disorder presenting with cavitating and tigroid‐like pattern of...

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Veröffentlicht in:JIMD Rep
Hauptverfasser: Alagia, Marianna, Cappuccio, Gerarda, Torella, Annalaura, D'Amico, Alessandra, Mazio, Federica, Romano, Alfonso, Fecarotta, Simona, Casari, Giorgio, Nigro, Vincenzo, Brunetti‐Pierri, Nicola
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley & Sons, Inc. 2020
Schlagworte:
Case Reports
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7052689/
https://ncbi.nlm.nih.gov/pubmed/32154054
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12094
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