SOD1 mutations in adult-onset distal spinal muscular atrophy
Eur J Neurol
.
2020 Nov;27(11):e75-e76.
doi: 10.1111/ene.14426.
Epub 2020 Jul 28.
Authors
Carlos Pablo de Fuenmayor-Fernández de la Hoz
1
,
Aurelio Hernández-Laín
2
3
,
Montse Olivé
4
5
6
,
Ana Arteche López
7
,
Jesús Esteban
1
,
Cristina Domínguez-González
1
3
8
Affiliations
1
Neuromuscular Unit, Department of Neurology, 12 de Octubre University Hospital, Madrid, Spain.
2
Neuromuscular Unit, Department of Pathology (Neuropathology), 12 de Octubre University Hospital, Madrid, Spain.
3
Hospital 12 de Octubre Research Institute (imas12), Madrid, Spain.
4
Neuromuscular Unit, Department of Neurology, Bellvitge Hospital, Barcelona, Spain.
5
Department of Pathology, Bellvitge Hospital, Barcelona, Spain.
6
IDIBELL Research Institute, Barcelona, Spain.
7
Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain.
8
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
PMID:
32619288
DOI:
10.1111/ene.14426
No abstract available
Publication types
Letter
Comment
MeSH terms
Adult
Humans
Muscular Atrophy, Spinal* / genetics
Mutation
Superoxide Dismutase-1 / genetics
Substances
SOD1 protein, human
Superoxide Dismutase-1