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

Abstract 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 th...

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Bibliographic Details
Main Authors: Dawn Brianna Lammert, David Miedema, Josiree Ochotorena, Nienke Dosa, Kalliopi Petropoulou, Roger Robert Lebel, Ai Sakonju
Format: Article
Language:English
Published: Wiley 2019-11-01
Series:Clinical Case Reports
Subjects:
Online Access:https://doi.org/10.1002/ccr3.2426