Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.

Autor: de Souza GC; Medical Genetics Sector, Faculty of Medicine, Federal University of Alagoas, Maceió, Alagoas, Brazil., Malta MC; Medical Genetics Sector, Faculty of Medicine, Federal University of Alagoas, Maceió, Alagoas, Brazil., Santos MRS; Medical Genetics Sector, Faculty of Medicine, Federal University of Alagoas, Maceió, Alagoas, Brazil., Fontes MÍB; Clinical Genetics Service, Medical Genetics Sector, Faculty of Medicine, University Hospital, Federal University of Alagoas, Maceió, Alagoas, Brazil.; Center of Health Sciences, Alagoas State University of Health Sciences-UNCISAL, Maceió, Alagoas, Brazil., de Sousa Anjos JL; Ophthalmology Sector, Faculty of Medicine, University Hospital, Federal University of Alagoas, Maceió, Alagoas, Brazil., Ribeiro DP; Ophthalmology Sector, Faculty of Medicine, University Hospital, Federal University of Alagoas, Maceió, Alagoas, Brazil., Kok F; Child Neurology Service, Department of Neurology, University of São Paulo School of Medicine, São Paulo, SP, Brazil.; Mendelics Genomic Analysis, São Paulo, SP, Brazil., Figueiredo T; Medical Genetics Sector, Faculty of Medicine, Federal University of Alagoas, Maceió, Alagoas, Brazil. thalita.figueiredo@famed.ufal.br.

Publikováno v: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Jun; Vol. 45 (6), pp. 2705-2710. Date of Electronic Publication: 2023 Dec 30.