Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease

Leukodystrophies are a heterogenous group of genetic disorders, characterised by abnormal development of cerebral white matter. Pelizaeus-Merzbacher disease is caused by mutations in PLP1, encoding major myelin-resident protein required for myelin sheath assembly. We report a missense variant p.(Ala...

Descripción completa

Detalles Bibliográficos
Autores principales: Elpidorou, Marilena, Poulter, James A., Szymanska, Katarzyna, Baron, Wia, Junger, Katrin, Boldt, Karsten, Ueffing, Marius, Green, Lydia, Livingston, John H., Sheridan, Eammon G., Johnson, Colin A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259702/
https://www.ncbi.nlm.nih.gov/pubmed/35217805
http://dx.doi.org/10.1038/s41431-022-01050-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259702/
https://www.ncbi.nlm.nih.gov/pubmed/35217805
http://dx.doi.org/10.1038/s41431-022-01050-9

Ejemplares similares