- A Case of Adynamia Episodica Hereditaria
-
Lee SS, Lee MS, Kim WT, Choi IS
- KMID: 2065860
- J Korean Neurol Assoc.
- 1988 Jun;6(1):122-126.
This is a case report of 32 year-old man with adynamia episodica hereditaria. Adynamia episodica hereditaria is a rare disorder characterized by episodic atacks of muscle weakness occuring in association... -
- CITED
-
- Close
- SHARE
-
- Close
- Myotonia Dystrophica: A Case Report
-
Kim JY, Kim YJ, Seong BY, Hwang MH
- KMID: 2446430
- J Korean Orthop Assoc.
- 1985 Feb;20(1):195-199.
- doi: 10.4055/jkoa.1985.20.1.195
Myotonia dystrophica(Synonym: Myotonia atrophica, Dystrophia myotonia, Steinert's disease) is a autosomal dominant hereditary multisystemic disorder involving several organs besides skeletal muscle, and commonly called with myotonia congenita, paramyotonia congenita as... -
- CITED
-
- Close
- SHARE
-
- Close
- Epidural anesthesia for a lumbar discectomy in a patient with paramyotonia congenita: A case report
-
Kim KW, Park JC, Kim HJ
- KMID: 2046873
- Anesth Pain Med.
- 2014 Oct;9(4):298-300.
- doi: 10.0000/apm.2014.9.4.298
Paramyotonia congenita is a rare hereditary skeletal muscle disease characterized by exercise- or cold-induced myotonia. Anesthesiologists should make any efforts to prevent perioperative myotonic attack and muscle weakness in patients... -
- CITED
-
- Close
- SHARE
-
- Close
- Neuromyelitis Optica Spectrum Disorder Preceded by Myotonic Myopathy
-
Lee H, Kim D, Kim W, Choi K, Park SH, Oh J
- KMID: 2464149
- J Korean Neurol Assoc.
- 2019 Nov;37(4):403-407.
- doi: 10.17340/jkna.2019.4.14
Neuromyelitis optica spectrum disorder (NMOSD) is generally known as selective involvement of central nervous system. However, in recent years, some evidences have been found that NMOSD invades other peripheral organs.... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Paramyotonia Congenita
-
Yoon YC, Chang SH, Ham DS, Lee KK, Kwon OS, Kim DE, Lee KW
- KMID: 2065992
- J Korean Neurol Assoc.
- 1995 Mar;13(1):151-156.
Paramyotonia congenita (PMC), an autosomal dominant non-progressive muscle disorder, is characterised by cold-induced stiffness followed by muscle weakness. The weakness is considered to be caused by a dysfunction of the... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Acute Colchicine-induced Myopathy with Myotonia in Behcet Disease
-
Oh SH, Joo IS, Joo SY, Lee ES, Shim C, Kim JH
- KMID: 2343051
- J Korean Neurol Assoc.
- 2003 Apr;21(2):220-223.
Colchicine has been used in the treatment of autoimmune diseases such as Behcet disease. Long-term use of colchicine can cause vacuolar myopathy on rare occasions. We report colchicine-induced myopathy with... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy
-
Lee SC, Kim HS, Park YE, Choi YC, Park KH, Kim DS
- KMID: 2287648
- J Clin Neurol.
- 2009 Dec;5(4):186-191.
- doi: 10.3988/jcn.2009.5.4.186
BACKGROUND AND PURPOSE: Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal... -
- CITED
-
- Close
- SHARE
-
- Close
- A Korean Family with Arg1448Cys Mutation of SCN4A Channel Causing Paramyotonia Congenita: Electrophysiologic, Histopathologic, and Molecular Genetic Studies
-
Kim DS, Kim EJ, Jung DS, Park KH, Kim IJ, Kwak KY, Kim CM, Ko HY
- KMID: 648803
- J Korean Med Sci.
- 2002 Dec;17(6):856-860.
- doi: 10.3346/jkms.2002.17.6.856
A family with paramyotonia congenita (PC) is presented. At least 10 family members were affected in an autosomal dominant inheritance pattern. The proband had cold-sensitive muscle stiffness, paradoxical myotonia,... -
- CITED
-
- Close
- SHARE
-
- Close
- Genetics of Channelopathy: Familial Periodic Paralysis
-
Kim MK
- KMID: 1852252
- J Korean Neurol Assoc.
- 2005 Dec;23(6):737-744.
Familial periodic paralysis (FPP) is inherited as a dominant trait, and the intermittent failure to maintain the skeletal muscle resting potential is due to mutations in the genes coding for... -
- CITED
-
- Close
- SHARE
-
- Close
