Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family

Conclusions: We employed WES to detect a missense mutation ofSPG7 gene in a PLS family. This finding expands the spectrum of knownSPG7 mutations, and it may contribute to novel approaches to genetic diagnosis and counseling of families with PLS.Eur Neurol 2019;81:87 –93

Source: European Neurology - May 22, 2019 Category: Neurology Source Type: research