机译:NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors
Center for Neuromuscular and Neurological Rare Diseases, San Camillo Forlanini Hospital, Rome, Italy;
Neuromuscular and Rare Disease Center, Department of Neuroscience, Mental Health and Sensory Organs;
Neuromuscular Diseases Unit, Department of Systems Medicine, University of Rome Tor Vergata, RomeMolecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris;
Neurofilament polypeptide light chain; Electroneuromyography; Neurogenetics; Peripheral neuropathies;