Confounding clinical presentation and different disease progression in CMT4B1

Charcot-Marie-Tooth (CMT) is the most frequent hereditary sensory and motor neuropathy (10-30/1000,000)[1]. Genetic testing is guided by clinical signs, nerve conduction studies and mode of inheritance.

Source: Neuromuscular Disorders - May 15, 2020 Category: Neurology Authors: Raquel Guimar ães-Costa, Rocio-Nur Villar-Quiles, Philippe Latour, Guilhem Sole, Isabelle Husson, Arnaud Lacour, Sarah Leonard-Louis, Tanya Stojkovic Tags: Case Report Source Type: research