Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

New article about a new tool for molecular diagnosis of Charcot-Marie-Tooth and Hereditary Motor Neuropathy

The group led by Dr. Carmen Espinós has recently reported a new paper entitled: “Assessment of targeted next-generation sequencing as a tool for the diagnosis of Charcot-Marie-Tooth disease and Hereditary Motor Neuropathy” in the Journal of Molecular Diagnosis. This article describes a new tool for molecular diagnosis: a panel with 56 genes involved in Charcot-Marie-Tooth disease and Hereditary Motor Neuropathy. This panel allows us to perform a very rapid and cost-effective screening of genes involved in these two groups of neuropathies. +info: http://dx.doi.org/10.1016/j.jmoldx.2015.10.005

PrintEmail