Open AccessCentral and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18
Author(s) -
Lammert Dawn Brianna,
Miedema David,
Ochotorena Josiree,
Dosa Nienke,
Petropoulou Kalliopi,
Lebel Roger Robert,
Sakonju Ai
Publication year - 2019
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2426
Subject(s) - medicine , leukodystrophy , myelin , ring chromosome , central nervous system , peripheral , chromosome , peripheral nervous system , myelin basic protein , pathology , neuroscience , gene , genetics , biology , karyotype , disease
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 clinical course of the disorder.