Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A

OBJECTIVE: To identify genetic differences among siblings with a family history of idiopathic transverse myelitis (ITM). METHODS: We compared whole-exome sequencing (WES) on germline samples from the 2 affected sisters with ITM with 3 of their healthy siblings. RESULTS: The 2 sisters with ITM both h...

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Detalles Bibliográficos
Autores principales: Mealy, Maureen A., Nam, Tai-Seung, Pardo, Santiago J., Pardo, Carlos A., Sobreira, Nara L., Avramopoulos, Dimitrios, Valle, David, Burns, Kathleen H., Levy, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820602/
https://www.ncbi.nlm.nih.gov/pubmed/29473047
http://dx.doi.org/10.1212/NXG.0000000000000213

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