New genes and diseases / ngs & related techniques

We report 16 patients from a cohort of 585 genotyped congenital myopathy patients whose whole exome sequencing (WES) results along with RNA sequencing (RNA-seq) revealed mutations in uncommon myopathy genes.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: A. Aykanat, C. Genetti, W. Win, Z. Valivullah, E. O'Heir, B. Darras, R. Laine, A. O'Donnell-Luria, A. Beggs Source Type: research