Mast Syndrome Outside the Amish Community: SPG21 in Europe

BACKGROUND: Mast syndrome is a rare disorder belonging to the group of hereditary spastic paraplegias (HSPs). It is caused by bi-allelic mutations in the ACP33 gene, and is originally described in Old Order Amish. Outside this population, only one Japanese and one Italian family have been reported....

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Detalles Bibliográficos
Autores principales: Amprosi, Matthias, Indelicato, Elisabetta, Nachbauer, Wolfgang, Hussl, Anna, Stendel, Claudia, Eigentler, Andreas, Gallenmüller, Constanze, Boesch, Sylvia, Klopstock, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801886/
https://www.ncbi.nlm.nih.gov/pubmed/35111129
http://dx.doi.org/10.3389/fneur.2021.799953

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801886/
https://www.ncbi.nlm.nih.gov/pubmed/35111129
http://dx.doi.org/10.3389/fneur.2021.799953

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