A novel NDRG1 mutation in a non ‐Romani patient with CMT4D/HMSN‐Lom

We report a 38‐year‐old Italian female with motor development delay, progressive neuropathy and sensorineural deafness. MRI showed slight atrophy of cerebellum, medulla oblongata and upper cervical spinal cord. She had a novel homozygous NDRG1 frameshift mutation (c.739delC; p.His247ThrfsTer74). The identification of this NDRG1 mutation confirms that CMT4D is not a private Romani disease and should be considered in the differential diagnosis of recessive demyelinating CMT.

Source: Journal of the Peripheral Nervous System - December 15, 2016 Category: Neurology Authors: Giuseppe Piscosquito, Stefania Magri, Paola Saveri, Micaela Milani, Claudia Ciano, Laura Farina, Franco Taroni, Davide Pareyson Tags: RESEARCH REPORTS Source Type: research