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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 107 - 109 (3page)
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초록· 키워드
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X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is caused by the mutation in GJB1 gene, characterized by the transient central nervous system involvement and long standing peripheral polyneuropathy which does not fulfill the criteria of demyelination or axonopathy. We describe a 37-year-old man with progressive bilateral leg weakness since his early teen. He suffered transient right hemiparesis, followed by quadriparesis at 14 years of age. When we examined him at 37 years of age, he presented a distal muscle weakness on lower extremities with a sensory symptom. The nerve conduction study demonstrated a motor conduction velocity between 26 and 49 m/s. The whole exome sequencing revealed a novel variant c.136 G>A in GJB1. This report will raise awareness in this rare disease, which is frequently misdiagnosed early in its course.
목차
등록된 정보가 없습니다.
참고문헌 (7)
참고문헌 신청
Wang Y / 2016 / A review of X-linked Charcot-Marie-Tooth disease / J Child Neurol 31:761~772
Kleopa KA / 2012 / How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease / Brain Res 1487:198~205
Tsai PC / 2016 / Clinical and biophysical characterization of 19 GJB1 mutations / Ann Clin Transl Neurol 3:854~865
Murphy SM / 2011 / Reliability of the CMT neuropathy score (second version)in Charcot-Marie-Tooth disease / J Peripher Nerv Syst 16:191~198
Park HK / 2006 / Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1 / Clin Genet 70:253~256
Kleopa KA / 2012 / How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease / Brain Res 1487:198~205
Tsai PC / 2016 / Clinical and biophysical characterization of 19 GJB1 mutations / Ann Clin Transl Neurol 3:854~865
Murphy SM / 2011 / Reliability of the CMT neuropathy score (second version)in Charcot-Marie-Tooth disease / J Peripher Nerv Syst 16:191~198
Park HK / 2006 / Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1 / Clin Genet 70:253~256
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