क्यूआर कोड

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...

पूर्ण विवरण

में बचाया:
मुख्य लेखकों: Marianna Alagia, Gerarda Cappuccio, Annalaura Torella, Alessandra D'Amico, Federica Mazio, Alfonso Romano, Simona Fecarotta, Giorgio Casari, Vincenzo Nigro, TUDP, Nicola Brunetti‐Pierri
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Wiley 2020-03-01
श्रृंखला:JIMD Reports
विषय:
leukodystrophy
mitochondrial
NDUFA2
ऑनलाइन पहुंच:https://doi.org/10.1002/jmd2.12094
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