Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation

This study broadens the clinical phenotype of hereditary motor and sensory neuropathy due to MPZ mutation and emphasises the difficulty of achieving an accurate genetic diagnosis in a sporadic patient to provide an appropriate pharmacologic treatment.

Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Lupo, V., Pascual-Pascual, S. I., Sancho, P., Calpena, E., Gutierrez-Molina, M., Mateo-Martinez, G., Espinos, C., Arriola-Pereda, G. Tags: Brief Communication Source Type: research