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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....
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| 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 |