An Italian kindred with FALS due to c.149T>C mutation in the SOD1 gene: case report of an affected family member

We report the first Italian kindred with Familial Amyotrophic Lateral Sclerosis (FALS) due to c.149T>C mutation in the exon 5 of superoxide dismutase-1 (SOD1) gene. The proband was a 49-year-old woman who came to our observation because of an history of progressive limbs weakness and gait impairm...

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Detalles Bibliográficos
Autores principales: Trojsi, Francesca, Piccirillo, Giovanni, Femiano, Cinzia, Damiano, Raffaele, Rosaria Monsurrò, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SpA 2013
Materias:
Case reportS
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3665374/
https://www.ncbi.nlm.nih.gov/pubmed/23853506

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