Article
Duplication of exons 15 and 16 in Matrin-3: a phenotype bridging amyotrophic lateral sclerosis and immune-mediated disorders.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Feb 2022
Caputo Maria, Zucchi Elisabetta, Martinelli Ilaria, Gianferrari Giulia, Simonini Cecilia, Amedei Amedeo, Niccolai Elena, Gellera Cinzia, Pensato Viviana, Mandrioli Jessica
Abstract excerpt
Mutations in Matrin-3 (MATR3) gene have been described in ALS, suggesting a role for this gene in the disease pathogenesis. While most of MATR3 mutations are point mutations, here we report the first case of ALS associated with duplication in exons 15 and 16. The patient presented with limb-onset ALS and a complex past medical history because of Sjögren syndrome, antiphospholipid antibodies positivity,...
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