Published in:
01-02-2019 | Correspondence
Cystic Leucoencephalopathy in NDUFV1 Mutation: Correspondence
Authors:
Josef Finsterer, Sinda Zarrouk-Mahjoub
Published in:
Indian Journal of Pediatrics
|
Issue 2/2019
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Excerpt
To the Editor: We read with interest the article by Wadhwa et al. about a one year boy with developmental delay and cystic leucoencephalopathy resembling Vanishing White Matter Disease (VWMD) [1]. Surprisingly, the phenotype was caused by a compound heterozygote missense mutation in the NDIFV1 gene [1]. We have the following comments and concerns. …