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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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
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author Lammert, Dawn Brianna
Miedema, David
Ochotorena, Josiree
Dosa, Nienke
Petropoulou, Kalliopi
Lebel, Roger Robert
Sakonju, Ai
author_facet Lammert, Dawn Brianna
Miedema, David
Ochotorena, Josiree
Dosa, Nienke
Petropoulou, Kalliopi
Lebel, Roger Robert
Sakonju, Ai
author_sort Lammert, Dawn Brianna
collection PubMed
description 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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spelling pubmed-68780352019-11-29 Central and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18 Lammert, Dawn Brianna Miedema, David Ochotorena, Josiree Dosa, Nienke Petropoulou, Kalliopi Lebel, Roger Robert Sakonju, Ai Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2019-09-27 /pmc/articles/PMC6878035/ /pubmed/31788257 http://dx.doi.org/10.1002/ccr3.2426 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Lammert, Dawn Brianna
Miedema, David
Ochotorena, Josiree
Dosa, Nienke
Petropoulou, Kalliopi
Lebel, Roger Robert
Sakonju, Ai
Central and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18
title Central and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18
title_full Central and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18
title_fullStr Central and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18
title_full_unstemmed Central and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18
title_short Central and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18
title_sort central and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18
topic Case Reports
url 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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