Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia

Pelizaeus-Merzbacher disease (PMD; MIM #312080) is a rare X-linked recessive disorder. A male neonate presented with severe respiratory distress that required tracheostomy. After the appearance of nystagmus, PMD was suspected as a diagnosis for the patient, and a missense mutation, p.Phe51Val, was i...

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Detalles Bibliográficos
Autores principales: Ueda, Ayako, Shimbo, Hiroko, Yada, Yukari, Koike, Yasunori, Yamagata, Takanori, Osaka, Hitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874395/
https://www.ncbi.nlm.nih.gov/pubmed/29619238
http://dx.doi.org/10.1038/hgv.2018.13
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author Ueda, Ayako
Shimbo, Hiroko
Yada, Yukari
Koike, Yasunori
Yamagata, Takanori
Osaka, Hitoshi
author_facet Ueda, Ayako
Shimbo, Hiroko
Yada, Yukari
Koike, Yasunori
Yamagata, Takanori
Osaka, Hitoshi
author_sort Ueda, Ayako
collection PubMed
description Pelizaeus-Merzbacher disease (PMD; MIM #312080) is a rare X-linked recessive disorder. A male neonate presented with severe respiratory distress that required tracheostomy. After the appearance of nystagmus, PMD was suspected as a diagnosis for the patient, and a missense mutation, p.Phe51Val, was identified in PLP1, the gene responsible for PMD. PMD can be a differential diagnosis in a male neonate presenting severe respiratory distress.
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spelling pubmed-58743952018-04-04 Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia Ueda, Ayako Shimbo, Hiroko Yada, Yukari Koike, Yasunori Yamagata, Takanori Osaka, Hitoshi Hum Genome Var Data Report Pelizaeus-Merzbacher disease (PMD; MIM #312080) is a rare X-linked recessive disorder. A male neonate presented with severe respiratory distress that required tracheostomy. After the appearance of nystagmus, PMD was suspected as a diagnosis for the patient, and a missense mutation, p.Phe51Val, was identified in PLP1, the gene responsible for PMD. PMD can be a differential diagnosis in a male neonate presenting severe respiratory distress. Nature Publishing Group 2018-03-29 /pmc/articles/PMC5874395/ /pubmed/29619238 http://dx.doi.org/10.1038/hgv.2018.13 Text en Copyright © 2018 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Ueda, Ayako
Shimbo, Hiroko
Yada, Yukari
Koike, Yasunori
Yamagata, Takanori
Osaka, Hitoshi
Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia
title Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia
title_full Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia
title_fullStr Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia
title_full_unstemmed Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia
title_short Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia
title_sort pelizaeus-merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874395/
https://www.ncbi.nlm.nih.gov/pubmed/29619238
http://dx.doi.org/10.1038/hgv.2018.13
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