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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 the early clinical course of the disorder.

SUBMITTER: Lammert DB

PROVIDER: S-EPMC6878035 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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

Lammert Dawn Brianna DB Miedema David D Ochotorena Josiree J Dosa Nienke N Petropoulou Kalliopi K Lebel Roger Robert RR Sakonju Ai A

Clinical case reports 20190927 11

Myelin basic protein (MBP) contributes to peripheral and central nervous system myelin. Developmental myelinopathies exist on a clinical spectrum, but <i>MBP</i> 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. ...[more]

PMID: 31788257

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