The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients.
Alves De Siqueira Carvalho A, Antônio Troccoli Chieia M, Braga Farias I, Bulle Oliveira AS, Pinto WBVR, Souza PVS.
Alves De Siqueira Carvalho A, et al.
Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):16-24. doi: 10.1080/21678421.2021.1910306. Epub 2021 Nov 5.
Amyotroph Lateral Scler Frontotemporal Degener. 2022.
PMID: 34738851
Review.
There are three types of autosomal recessive disorders involving pathogenic variants in the ALS2 gene (OMIM*606352), infantile ascending hereditary spastic paraplegia (IAHSP), juvenile primary lateral sclerosis (JPLS) and juvenile amyotrophic lateral s …
There are three types of autosomal recessive disorders involving pathogenic variants in the ALS2 gene (OMIM*606352), infantile ascending her …