Hereditary Neuropathy with Liability to Pressure Palsy Diagnosed by Molecular Genetic Analysis

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J Korean Assoc EMG Electrodiagn Med 2003;5(1):53-57.
Published online May 10, 2003.

Abstract

We report a patient with Hereditary Neuropathy with Liability to Pressure Palsy (HNPP), which was confirmed by PFGE-Southern Blot and FISH. A 24-year old man had been suffering from both upper and lower extremities’ tingling sense, hypesthesia, pain and weakness during several months. No definite history of recurrent pressure palsy was taken. A nerve conduction study showed demyleninating sensorimotor polyneuropathy. We analyzed patient’s blood by PFGE-Southern Blot and FISH, which revealed an abnormal deletion of the PMP-22 gene in the chromosome 17p11.2. HNPP, PFGE-Southern Blot, FISH, PMP-22 gene in the chromosome 17p11.2

Key Words: Jae Hwan Byun, M.D.

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