A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes

Keyphrases

• Family Members 100%
• Peripheral Myelin Protein 22 (PMP22) 100%
• Hereditary Neuropathy with Liability to Pressure Palsies 100%
• CMT1A 100%
• Cypriot 33%
• Demyelinating 33%
• Genetic Testing 33%
• Polyneuropathy 33%
• Charcot-Marie-Tooth 33%
• Tooth Type 33%
• Novel Point mutations 33%
• Pressure Palsy 33%
• Slowly Progressive 33%
• Sensorimotor Polyneuropathy 33%
• Nerve Conduction Studies 33%
• PMP22 Gene 33%
• All-affected 33%

Medicine and Dentistry

• Polyneuropathy 100%
• Peripheral Myelin Protein 22 100%
• Hereditary Neuropathy with Liability to Pressure Palsy 100%
• Paralysis 50%
• Genetic Screening 50%
• Point Mutation 50%
• Nerve Conduction Study 50%