1.Charcot-Marie-Tooth type 1A Patient with a Novel Frame Shift Mutation (Ala106fs) in the PMP22 Gene.
Byung Ok CHOI ; Ki Wha CHUNG ; Kee Duk PARK ; Kyoung Gyu CHOI ; Seung Min KIM ; Yongsoeng KIM ; Mi Sun LEE ; Il Nam SUNWOO
Journal of the Korean Neurological Association 2004;22(6):673-676
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.
Charcot-Marie-Tooth Disease
;
Deafness
;
Frameshift Mutation*
;
Hearing Loss
;
Hearing Loss, Sensorineural
;
Humans
Result Analysis
Print
Save
E-mail