J Korean Neurol Assoc.
2004 Dec;22(6):673-676.
Charcot-Marie-Tooth type 1A Patient with a Novel Frame Shift Mutation (Ala106fs) in the PMP22 Gene
- Affiliations
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- 1Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea.
- 2Department of Biological Science, Kongju National University, Gongju, Korea.
- 3Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. neuro@yumc.yonsei.ac.kr
- 4Department of Chemistry, Kyungnam University, Masan, Korea.
Abstract
- Charcot-Marie-Tooth disease (CMT) with hearing impairment is a clinically distinct rare entity described in a few families, usually with a demyelinating neuropathy. The molecular basis for this disease has not been established with certainty. Audiological evaluation has revealed auditory neuropathy in the affected individual. We report a CMT1A family with sensorineural hearing loss and a novel frame shift mutation Ala106fs (318delT) in the PMP22 gene.
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