Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1

Autor:	Ji-Su Lee, Jin Seok Yu, Sun Hee Hwang, Young Bin Hong, Hyung Jun Park, Da Eun Nam, Da Hye Yoo, Byung-Ok Choi, Ki Wha Chung, Jin-Mo Park
Rok vydání:	2017
Předmět:	Adult Male 0301 basic medicine medicine.medical_specialty Pathology Ataxia Neural Conduction Action Potentials Disease Gene mutation medicine.disease_cause Asymptomatic Genetic analysis Connexins 03 medical and health sciences 0302 clinical medicine Charcot-Marie-Tooth Disease Internal medicine Republic of Korea Evoked Potentials Auditory Brain Stem medicine Humans Genetic Testing Genetic testing Mutation Chi-Square Distribution medicine.diagnostic_test Electromyography business.industry General Neuroscience Middle Aged Magnetic Resonance Imaging 030104 developmental biology Female Neurology (clinical) medicine.symptom business Chi-squared distribution 030217 neurology & neurosurgery
Zdroj:	Journal of the Peripheral Nervous System. 22:172-181
ISSN:	1085-9489
DOI:	10.1111/jns.12217
Popis:	Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families. Genetic analysis revealed a total of 43 mutations including 6 novel mutations. Ten mutations were found from two or more unrelated families. p.V95M was most frequently observed. The frequency of CMTX1 was 9.6% of total Korean CMT family and was 14.8% when calculated within genetically identified cases. Among 67 male and 61 female patients, 22 females were asymptomatic. A high-arched foot, ataxia, and tremor were observed in 87%, 41%, and 35% of the patients, respectively. In the male patients, functional disability scale, CMT neuropathy score, and compound muscle action potential of the median/ulnar nerves were more severely affected than in the female patients. This study provides a comprehensive summary of the clinical features and spectrum of GJB1 gene mutations in Korean CMTX1 patients.
Databáze:	OpenAIRE
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