Charcot-Marie-Tooth type 1A Patient with a Novel Frame Shift Mutation (Ala106fs) in the PMP22 Gene
Journal of the Korean Neurological Association
;
: 673-676, 2004.
Article
in Korean
| WPRIM
| ID: wpr-199097
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Charcot-Marie-Tooth Disease
/
Frameshift Mutation
/
Deafness
/
Hearing Loss
/
Hearing Loss, Sensorineural
Limits:
Humans
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
2004
Type:
Article
Similar
MEDLINE
...
LILACS
LIS