Charcot-Marie-Tooth type 1A Patient with a Novel Frame Shift Mutation (Ala106fs) in the PMP22 Gene.
- Author:
Byung Ok CHOI
1
;
Ki Wha CHUNG
;
Kee Duk PARK
;
Kyoung Gyu CHOI
;
Seung Min KIM
;
Yongsoeng KIM
;
Mi Sun LEE
;
Il Nam SUNWOO
Author Information
1. Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
CMT1A;
PMP22;
Deafness;
Frame shift mutation
- MeSH:
Charcot-Marie-Tooth Disease;
Deafness;
Frameshift Mutation*;
Hearing Loss;
Hearing Loss, Sensorineural;
Humans
- From:Journal of the Korean Neurological Association
2004;22(6):673-676
- CountryRepublic of Korea
- Language:Korean
-
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.
