- A novel p.Leu699Pro mutation in MFN2 gene causes Charcot-Marie-Tooth disease type 2A
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Kang SY, Ko KH, Oh JH
- KMID: 2434189
- Ann Clin Neurophysiol.
- 2019 Jan;21(1):57-60.
- doi: 10.14253/acn.2019.21.1.57
Axonal Charcot-Marie-Tooth disease (CMT2) has most frequently been associated with mutations in the MFN2 gene. MFN2 encodes mitofusin 2, which is a mitochondrial fusion protein that plays an essential role... -
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- Operative Treatment of Charcot-Marie-Tooth Disease
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Oh IS, Lee DY
- KMID: 2450573
- J Korean Orthop Assoc.
- 1980 Mar;15(1):166-173.
- doi: 10.4055/jkoa.1980.15.1.166
Since the independent reports of Charcot and Marie and of Tooth, in 1886, interest in this familial disease has centered largely in the genetic and diagnostic aspects, and yet references... -
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- A Case Report of Neuronal Type of Charcot-Marie-Tooth Disease
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Kim EK, Kim H, Kim JD
- KMID: 2065914
- J Korean Neurol Assoc.
- 1989 Dec;7(2):400-404.
We report a familial case of neuronal type of Charcot-Marie-Tooth disease diagnosed by sural nerve biopsy, nerve conduction study, and electromyography. -
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- DNA diagnostic testing in hereditary motor and sensory neuropathies
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Choi BO
- KMID: 2288513
- J Genet Med.
- 2007 Dec;4(2):115-121.
Hereditary motor and sensory neuropathy (HMSN; Charcot-Marie-Tooth disease, CMT) was first described by Charcot and Marie in France and, independently, by Tooth in England in 1886. HMSN is the most... -
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- Misunderstanding of Foot Drop in a Patient with Charcot-Marie-Tooth Disease and Lumbar Disk Herniation
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Han Y, Kim KT, Cho DC, Sung JK
- KMID: 1956430
- J Korean Neurosurg Soc.
- 2015 Apr;57(4):295-297.
- doi: 10.3340/jkns.2015.57.4.295
We report the case of 57-year-old woman diagnosed with Charcot-Marie-Tooth (CMT) disease and lumbar disk herniation (LDH). She had left leg weakness and foot numbness, foot deformity (muscle atrophy, high... -
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- Delayed Recovery of Neuromuscular Blockade by Rocuronium in a Patient with Charcot-Marie-Tooth Disease: Case reports
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Cheong YK, Lee C, Son Y, Song YK, Kim TY, Kim DJ, O S
- KMID: 2238315
- Korean J Anesthesiol.
- 2007 Jul;53(1):145-149.
- doi: 10.4097/kjae.2007.53.1.145
Charcot-Marie-Tooth disease, which is also known as hereditary motor and sensory neuropathy, is a heterogenous group of inherited diseases of the peripheral nerve. The spectrum of severity varies from asymptomatic... -
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- A Case of Charcot-Marie-Tooth Disease type 1A with Guillain-Barre Syndrome
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Lee BH, Oh BC, Khang SK, Kim KK
- KMID: 2137980
- J Korean Neurol Assoc.
- 2002 Nov;20(6):721-724.
Charcot-Marie-Tooth disease (CMTD) is a hereditary neuropathy with slow progression, whereas Guillain-Barre syndrome is an acute acquired neuropathy of immunopathogenesis. A 17 year-old girl with hammertoes and pes cavus developed... -
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- A Family of Hereditary Neuropathy with Liability to Pressure Palsy Presenting Atypical Electrophysiological Features
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Oh J, Kim SH, Kim JY, Kim HJ, Park KD
- KMID: 1626922
- J Korean Neurol Assoc.
- 2005 Jun;23(3):411-414.
We report a 15-year-old girl with hereditary neuropathy with liability to pressure palsy (HNPP), whose electrophysiological features mimicked Charcot-Marie-Tooth disease 1A. Her mother was asymptomatic, but a nerve conduction study... -
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- Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes
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Nam SH, Choi BO
- KMID: 2469528
- Precis Future Med.
- 2019 Jun;3(2):43-68.
- doi: 10.23838/pfm.2018.00163
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies and is both genetically and clinically heterogeneous, with variable inheritance modes. With regard to clinical and genetic aspects, CMT... -
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- X-linked Charcot-Marie-Tooth Disease Type 1 Harboring Unusual Electrophysiological Features
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Park HJ, Shin HY, Lee HE, Lee DH, Kim KM, Choi BO, Kim SM
- KMID: 2191164
- J Korean Neurol Assoc.
- 2014 May;32(2):108-112.
Charcot-Marie-Tooth X type 1 (CMTX1) is caused by mutations in the connexin 32 gene (Cx32) on the X chromosome. Electrophysiologically, CMTX1 is usually associated with intermediate slowing of conduction velocities... -
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- Anesthetic Management in a Patient with Charcot-Marie-Tooth Disease: A case report
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Kim ES, Chang HW, Hwang WJ, Lee YK
- KMID: 1936739
- Korean J Anesthesiol.
- 2006 Mar;50(3):341-345.
- doi: 10.4097/kjae.2006.50.3.341
A 35-year old woman was scheduled to undergo a total hystectomy due to uterine myoma. She had been diagnosed with Charcot-Marie-Tooth disease 2 years ago. In addition, she had previously... -
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- Current Issues of the Charcot-Marie-Tooth Disease
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Choi BO
- KMID: 1958197
- J Korean Med Assoc.
- 2007 May;50(5):457-463.
- doi: 10.5124/jkma.2007.50.5.457
Hereditary motor and sensory neuropathy (HMSN), or Charcot-Marie-Tooth (CMT) disease, was described by Charcot and Marie in France and, independently, by Tooth in England in 1886. CMT is the most... -
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- Combined Spinal-Epidural Anesthesia for Cesarean Section with Charcot-Marie-Tooth Patient: A case report
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Choi SH, Lee WK, Han S, Jeon DH, Koo BN
- KMID: 2237487
- Korean J Anesthesiol.
- 2006 Jan;50(1):108-110.
- doi: 10.4097/kjae.2006.50.1.108
Charcot-Marie-Tooth disease (CMTD) comprises a group of disorders characterized by progressive distal muscle weakness and atrophy. We report the management of a 37-year-old multigravida with CMTD scheduled for Cesarean section.... -
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- Anesthetic Management for a Patient with Charcot-Marie-Tooth Disease Using Propofol and Rocuronium
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Kwak HJ, Han SM, Kim DY, Kwak HS
- KMID: 1759993
- Korean J Anesthesiol.
- 2003 May;44(5):721-724.
- doi: 10.4097/kjae.2003.44.5.721
This case involves a 43-year-old man who had been diagnosed as having Charcot-Marie-Tooth disease (CMTD) 9 years ago and was scheduled to undergo posterior fusion of its spine due to... -
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- X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene
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Lee JM, Shin JH
- KMID: 2435951
- J Genet Med.
- 2018 Dec;15(2):107-109.
- doi: 10.5734/JGM.2018.15.2.107
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... -
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- Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China
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Feng SY, Feng SM, Li LY, Zou ZY
- KMID: 2407961
- J Clin Neurol.
- 2018 Apr;14(2):261-263.
- doi: 10.3988/jcn.2018.14.2.261
No abstract available. -
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- Is Roussy-Levy Syndrome the same as Charcot-Marie-Tooth Disease?
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Lee JH, Na DL, Park SH, Lee KW
- KMID: 1661114
- J Korean Neurol Assoc.
- 1994 Mar;12(1):170-174.
We report data on 2 members of a family affected by a dominantly inherited disorder closely resembling Roussy-Levy syndrome(RLS) Electrophysiological findings showed a marked decrease of motor and sensory conduction... -
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- Charcot-Marie-Tooth Disease: Seventeen Causative Genes
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Lee JH, Choi BO
- KMID: 1700741
- J Clin Neurol.
- 2006 Jun;2(2):92-106.
- doi: 10.3988/jcn.2006.2.2.92
Charcot-Marie-Tooth disease (CMT) is the most common form of inherited motor and sensory neuropathy. Moreover, CMT is a genetically heterogeneous disorder of the peripheral nervous system, with many genes identified... -
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- Molecular Genetic Analyses of Charcot-Marie-Tooth Disease Type 1A in Korean
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Kim SM, Choi BO, SunWoo IN, Ahn YH, Lee JS, Park BB, Kim DS
- KMID: 2186072
- J Korean Neurol Assoc.
- 1999 Nov;17(6):848-852.
BACKGROUND: Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant inherited demyelinating peripheral neuropathy characterized by progressive distal muscular atrophy and marked slowing of nerve conduction velocities. A 1.5 Mb... -
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- A Novel V136A Mutation in Cx32 and a R359W Mutation in EGR2 within a Charcot-Marie-Tooth Patient
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Choi BO, Chung KW, Kim SM, Park KD, Lee MS, Shin SH, Lee J, Sunwoo IN
- KMID: 2185721
- J Korean Neurol Assoc.
- 2004 Feb;22(1):80-83.
Mutations of the CMT genes develop a variety of distinct phenotypes. Cx32 gene mutations cause the X-linked form of CMT disease, and mutations in EGR2 are associated with CMT type... -
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