- Hereditary Motor and Sensory Neuropathy Type I: A case report
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Lee HK, Bae DK, Kim MH, Ahn BW
- KMID: 2460387
- J Korean Orthop Assoc.
- 1978 Jun;13(2):225-231.
- doi: 10.4055/jkoa.1978.13.2.225
Hereditary motor and sensory neuropathy is an unusual disease which is characterized by deformity of phe foot, acral sensory loss, decreare of deep tendon reflexes, enlargement of peripheral nerve and... -
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- Genetics of Hereditary Peripheral Neuropathies
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Cho SY, Choi BO
- KMID: 2244889
- J Genet Med.
- 2009 Jun;6(1):25-37.
Hereditary peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies (HMN), and hereditary sensory neuropathies (HSN). HMSN, HMN, and HSN are further subdivided into... -
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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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- 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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- Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement
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Oh JH, Lee HS, Cha DM, Kang SY
- KMID: 2165532
- Exp Neurobiol.
- 2014 Sep;23(3):266-269.
- doi: 10.5607/en.2014.23.3.266
Charcot-Marie-Tooth disease (CMT) 2A with optic atrophy is referred to as hereditary motor and sensory neuropathy type VI (HMSN VI) and is caused by mitofusin 2 gene (MFN2) mutation. In... -
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- A Case of Hereditary Motor and Sensory Neuropathy Type III
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Cho SH, Kim SJ, Kim YH, Kim YT, Lee YK, Kim DU, Han SH, Chung SY, Lee IG, Whang KT, Chi JG
- KMID: 1606473
- J Korean Pediatr Soc.
- 2001 Sep;44(9):1057-1061.
Hereditary motor and sensory neuropathy type III, which is also known as Dejerine-Sottas disease, is a severe demyelinating polyneuropathy which presents from birth or infancy, and is sometimes presented as... -
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- X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene
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Choi BO, Sunwoo IN, Park KD, Kim YJ, Choi KG, Lee MS, Hwang JH, Chung KW
- KMID: 2185720
- J Korean Neurol Assoc.
- 2004 Feb;22(1):76-79.
X-linked Charcot-Marie-Tooth (CMTX) disease is a clinically heterogeneous hereditary motor and sensory neuropathy. The X-linked inheritance showed an absence of male-to-male transmission and a more severe disease phenotype in affected... -
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- Dynamic Transcriptional Events in Distal Sural Nerve Revealed by Transcriptome Analysis
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Hong YB, Jung SC, Lee J, Moon HS, Chung KW, Choi BO
- KMID: 2165518
- Exp Neurobiol.
- 2014 Jun;23(2):169-172.
- doi: 10.5607/en.2014.23.2.169
Compared with biochemical information available about the diseases in the central nervous system, that for peripheral neuropathy is quite limited primarily due to the difficulties in obtaining samples. Characterization of... -
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- Dejerine-Sottas Disease: One Case Report
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Yoo MC, Koo IH, Kim CK
- KMID: 2450051
- J Korean Orthop Assoc.
- 1983 Apr;18(2):415-418.
- doi: 10.4055/jkoa.1983.18.2.415
A case of hypertrophic interstitial neuropathy in a 32 years old man developed in the median nerve is reported. This is a rare disease characterized by thickened peripheral nerves which... -
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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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- Dejerine-Sottas Disease: A Case
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Kim JR, Kim KY, Ahn BH
- KMID: 2464048
- J Korean Orthop Assoc.
- 1971 Dec;6(4):415-418.
- doi: 10.4055/jkoa.1971.6.4.415
A case of progressive hypertrophic interstitial neuropathy developed in the median nerve of the right hand is reported. The patient was a 27-year old housewife who had complained of numbness... -
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- Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family
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Choi YJ, Hyun YS, Nam SH, Koo H, Hong YB, Chung KW, Choi BO
- KMID: 2179579
- J Clin Neurol.
- 2015 Jan;11(1):92-96.
- doi: 10.3988/jcn.2015.11.1.92
BACKGROUND: Mutations in the gene encoding periaxin (PRX) are known to cause autosomal recessive Dejerine-Sottas neuropathy (DSN) or Charcot-Marie-Tooth disease type 4F. However, there have been no reports describing Korean... -
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- Hypertrophic Interstitial Neuritis of Cauda Equina: Case Report with Myelographic Findings
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Chee SH
- KMID: 1969643
- Ewha Med J.
- 1979 Jun;2(2):113-117.
- doi: 10.12771/emj.1979.2.2.113
The author reports a case of surgery-proved hypertrophic interstitial neuritis of cauda equina. The pathogenesis of the unique myelographic findings is described and illustrated. SUMMARY A case of surgery-proved hypertrophic... -
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- Mutational Analysis of the Neurofilament Light Chain (NEFL) Gene in Patients with Charcot-Marie-Tooth Disease
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Cho HJ, Chung KW, Sunwoo IN, Park KD, Kim DS, Seo BC, Lee MS, Youn EK, Choi BO
- KMID: 2065572
- J Korean Neurol Assoc.
- 2005 Oct;23(5):642-649.
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. Neurofilament light chain polypeptide (NEFL) is one of the most abundant cytoskeletal components of the... -
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- Myelin Protein Zero (MPZ) Gene Analysis in Korean Patients with Charcot-Marie-Tooth: Clinical and Electrophysiological Characteristics
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Choi BO, Chung KW, Cho HJ, Park KD, Lee KS, Kim SM, Sunwoo IN
- KMID: 2343145
- J Korean Neurol Assoc.
- 2005 Apr;23(2):227-231.
BACKGROUND: Mutations in the myelin protein zero (MPZ) gene, which is located on chromosome 1q21-q22, is present in Charcot-Marie-Tooth disease type 1B (CMT1B), CMT type 2, Dejerine-Sottas syndrome, and congenital... -
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