SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo

Amyotrophic lateral sclerosis (ALS) is frequently caused by mutations in the SOD1 gene. Here, we report the first SOD1 variant in Malta, an archipelago of three inhabited islands in southern Europe. We describe a patient with a sporadic form of ALS living on the island of Gozo in which the heterozyg...

Descripción completa

Detalles Bibliográficos
Autores principales: Farrugia Wismayer, Maia, Farrugia Wismayer, Andrew, Pace, Adrian, Vassallo, Neville, Cauchi, Ruben J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259738/
https://www.ncbi.nlm.nih.gov/pubmed/34616013
http://dx.doi.org/10.1038/s41431-021-00975-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259738/
https://www.ncbi.nlm.nih.gov/pubmed/34616013
http://dx.doi.org/10.1038/s41431-021-00975-x

Ejemplares similares