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

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

Abstract 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 pa...

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Bibliographic Details
Main Authors: Marianna Alagia, Gerarda Cappuccio, Annalaura Torella, Alessandra D'Amico, Federica Mazio, Alfonso Romano, Simona Fecarotta, Giorgio Casari, Vincenzo Nigro, TUDP, Nicola Brunetti‐Pierri
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:JIMD Reports
Subjects:
leukodystrophy
mitochondrial
NDUFA2
Online Access:https://doi.org/10.1002/jmd2.12094

Internet

https://doi.org/10.1002/jmd2.12094

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