Does genetic anticipation occur in familial Alexander disease?

Alexander Disease (AxD) is a rare leukodystrophy caused by missense mutations of glial fibrillary acidic protein (GFAP). Primarily seen in infants and juveniles, it can present in adulthood. We report a family with inherited AxD in which the mother presented with symptoms many years after her daught...

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Detalles Bibliográficos
Autores principales: Hunt, Camille K., Al Khleifat, Ahmad, Burchill, Ella, Ederle, Joerg, Al-Chalabi, Ammar, Sreedharan, Jemeen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8241638/
https://www.ncbi.nlm.nih.gov/pubmed/34046764
http://dx.doi.org/10.1007/s10048-021-00642-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8241638/
https://www.ncbi.nlm.nih.gov/pubmed/34046764
http://dx.doi.org/10.1007/s10048-021-00642-9

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