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A novel P66S mutation in exon 3 of the SOD1 gene with early onset and rapid progression

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dc.contributor.authorKeckarević, Dušan (6507380019)
dc.contributor.authorStević, Zorica (57204495472)
dc.contributor.authorKeckarević-Marković, Milica (18434375900)
dc.contributor.authorKecmanović, Miljana (36860979600)
dc.contributor.authorRomac, Stanka (7003983993)
dc.date.accessioned2025-07-02T12:40:12Z
dc.date.available2025-07-02T12:40:12Z
dc.date.issued2012
dc.description.abstractAmyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease in adults of unknown origin in most cases. Here we report a novel P66S mutation in exon 3 of the SOD1 gene in an apparently sporadic ALS patient with unusual early onset and rapid disease progression. Our data widen the spectrum of SOD1 mutations and clinical presentations of ALS. © 2012 Informa Healthcare.
dc.identifier.urihttps://doi.org/10.3109/17482968.2011.627588
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84856612706&doi=10.3109%2f17482968.2011.627588&partnerID=40&md5=7efd236f324d885a03c0e5edd1784591
dc.identifier.urihttps://remedy.med.bg.ac.rs/handle/123456789/13969
dc.subjectAmyotrophic lateral sclerosis
dc.subjectEarly onset
dc.subjectExon 3 mutation
dc.subjectRapid disease progression
dc.subjectSOD1
dc.titleA novel P66S mutation in exon 3 of the SOD1 gene with early onset and rapid progression
dspace.entity.typePublication

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