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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.10
- 수록면
- 130 - 133 (4page)
- DOI
- https://doi.org/10.14253/acn.2021.23.2.130
이용수
초록· 키워드
오류제보하기
X-linked Charcot Marie Tooth disease type 1 (CMTX1) is a clinically heterogenous X-linked hereditary neuropathy caused by mutation of the gene encoding gap junction beta 1 protein (GJB1). Typical clinical manifestations of CMTX1 are progressive weakness or sensory disturbance due to peripheral neuropathy. However, there have been some CMTX1 cases with accompanying central nervous system (CNS) manifestations. We report the case of a genetically confirmed CMTX1 patient who presented recurrent transient CNS symptoms without any symptom or sign of peripheral nervous system involvement.
목차
등록된 정보가 없습니다.
참고문헌 (6)
참고문헌 신청
Wang Y / 2016 / A review of X-linked Charcot-Marie-Tooth disease / J Child Neurol 31:761~772
Vazza G / 2006 / A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset / Neuromuscul Disord 16:878~881
Sargiannidou I / 2009 / Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects / J Neurosci 29:4736~4749
Al-Mateen M / 2014 / The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease : a transient disorder of children and young adults / J Child Neurol 29:342~348
Lee MJ / 2002 / Six novel connexin32(GJB1)mutations in X-linked Charcot-Marie-Tooth disease / J Neurol Neurosurg Psychiatry 73:304~306
Vazza G / 2006 / A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset / Neuromuscul Disord 16:878~881
Sargiannidou I / 2009 / Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects / J Neurosci 29:4736~4749
Al-Mateen M / 2014 / The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease : a transient disorder of children and young adults / J Child Neurol 29:342~348
Lee MJ / 2002 / Six novel connexin32(GJB1)mutations in X-linked Charcot-Marie-Tooth disease / J Neurol Neurosurg Psychiatry 73:304~306
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