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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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| Pubblicato in: | JIMD Rep |
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| Autori principali: | , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley & Sons, Inc.
2020
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| Soggetti: | |
| Accesso online: | 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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