Central and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18

Myelin basic protein (MBP) contributes to peripheral and central nervous system myelin. Developmental myelinopathies exist on a clinical spectrum, but MBP is not included on leukodystrophy or CMT gene panels. This ring chromosome 18 case presents serial MRI and EMG/NCS, shedding light on the early c...

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Detalles Bibliográficos
Autores principales: Lammert, Dawn Brianna, Miedema, David, Ochotorena, Josiree, Dosa, Nienke, Petropoulou, Kalliopi, Lebel, Roger Robert, Sakonju, Ai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878035/
https://www.ncbi.nlm.nih.gov/pubmed/31788257
http://dx.doi.org/10.1002/ccr3.2426

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878035/
https://www.ncbi.nlm.nih.gov/pubmed/31788257
http://dx.doi.org/10.1002/ccr3.2426

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