Identification of novel genes implicated in Charcot-Marie- Tooth neuropathies using next generation whole genome sequencing. University of Antwerp
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and is clinically and genetically extremely heterogeneous. During the last two decades, molecular genetic studies have led to the successful identification of over 36 CMT-genes. Currently, only a few CMT-loci remain unresolved. This project addresses the identification of CMT-causing mutations and genes in two of them: DI-CMTA and CMT2G. Because of their private ...