Academic Journal
Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder
| العنوان: | Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder |
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| المؤلفون: | Alagia, Marianna, Cappuccio, Gerarda, Torella, Annalaura, D'Amico, Alessandra, Mazio, Federica, Romano, Alfonso, Fecarotta, Simona, Casari, Giorgio, Nigro, Vincenzo, Brunetti‐Pierri, Nicola |
| المساهمون: | Fondazione Telethon |
| المصدر: | JIMD Reports ; volume 52, issue 1, page 11-16 ; ISSN 2192-8312 2192-8312 |
| بيانات النشر: | Wiley |
| سنة النشر: | 2020 |
| المجموعة: | Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: | 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 leukodystrophy and without systemic biochemical abnormalities of mitochondrial disorders. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1002/jmd2.12094 |
| الاتاحة: | http://dx.doi.org/10.1002/jmd2.12094 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fjmd2.12094 https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12094 https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jmd2.12094 |
| Rights: | http://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: | edsbas.BF996E3A |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/jmd2.12094 |
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