The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations

OBJECTIVES: 4H leukodystrophy is a rare autosomal recessive hypomyelinating disorder characterized by several combinations of motor dysfunction, abnormal dentition, and ophthalmic and endocrine abnormalities. To date, only a single Korean case report of pediatric leukodystrophy caused by the POLR1C...

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Detalles Bibliográficos
Autores principales: Yang, Hui-Jun, Park, Gyeongmin, Nam-Goong, Il Seong, Ahn, Jun-Woo, Weon, Young Cheol
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9007423/
https://www.ncbi.nlm.nih.gov/pubmed/35434302
http://dx.doi.org/10.1212/NXG.0000000000000667

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9007423/
https://www.ncbi.nlm.nih.gov/pubmed/35434302
http://dx.doi.org/10.1212/NXG.0000000000000667

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