The heterogeneous genetic landscape of NMDs raises challenges regarding the definition of a molecular diagnosis, now becoming mandatory for the inclusion in emerging therapeutic trials. To improve the diagnostic definition in our NMDs patients we used a next generation sequencing approach: clinical gene panel analysis for the screening of known genes, WES (whole exome sequencing) and WGS (whole genome sequencing) analysis aimed at the identification of novel causative genes. WES analysis was performed in 6 “families of four” and 2 “trios”: 3 of them with congenital myopathy/dystrophy, 1 with spastic paraplegia, 2 with ataxia, 1 with myofibrillar myopathy, and 1 with AV block and LGMD.

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