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

Lammert Dawn Brianna | Zendy; Miedema David | Zendy; Ochotorena Josiree | Zendy; Dosa Nienke | Zendy; Petropoulou Kalliopi | Zendy; Lebel Roger Robert | Zendy; Sakonju Ai | Zendy

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Central 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.

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