Clin Neurol Neurosurg 2021 Jul 21;208:106829. Epub 2021 Jul 21.
Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Rua da Junqueira 126, 1349-019 Lisbon, Portugal; CEDOC Chronic Diseases Research Centre, Nova Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.
Introduction: Point mutations in the Peripheral Myelin Protein 22 (PMP22) gene comprise less than 5% of the Charcot-Marie-Tooth (CMT) type 1 cases, and individualize either the CMT 1E subtype, or Hereditary Neuropathy with Liability to Pressure Palsy. The phenotype of CMT 1E presents with a severe early-onset polyneuropathy associated with deafness, although the clinical spectrum is broad.
Case Report: We describe a novel PMP22 gene point mutation (c. Read More