- Myotonia Dystrophica: A Case Report
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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... -
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- A Case Report of Myotonia Atrophica
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Ahn YC, Lee SH, Lee SC
- KMID: 2464367
- J Korean Orthop Assoc.
- 1970 Sep;5(3):121-125.
- doi: 10.4055/jkoa.1970.5.3.121
The phenomenon of Myotonia consist in a failure of voluntary muscles to relax immediately when voluntary innervation ceases. The stiffness is accentuated by cold and relieved by exercise, while generalized... -
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- Two Cases of Becker's Type Congenital Myotonia
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Moon IS, Jung DS, Park KH
- KMID: 2342536
- J Korean Neurol Assoc.
- 1996 Jun;14(2):605-611.
Congenital myotonia is a benign familial disorder, main problem is muscle stiffness, delayed relaxation of skeletal muscles after voluntary contraction or following mechanical or electrical stimulation. Although weakness is always... -
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- Hashimoto Thyroiditis Presenting with a Transient Myotonia
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Lee SS, Cha M, Yeo M
- KMID: 2435787
- J Korean Neurol Assoc.
- 2018 Feb;36(1):49-51.
- doi: 10.17340/jkna.2018.1.12
No abstract available. -
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- Myotonia Dystrophica
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Park KH, Kim SJ, Oh CH
- KMID: 2424947
- J Korean Neurosurg Soc.
- 1976 Jun;5(1):189-194.
Myotonia dystrophica or myotonia atrophica is inheritant disease which appears usually from 2nd or 3rd decade. This disorder is characterized by an impaired ability to relax a previously contracted muscle,... -
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- Myotonic Dystrophy (A case report)
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Chung SM, Kim YA
- KMID: 2460652
- J Korean Orthop Assoc.
- 1979 Mar;14(1):119-123.
- doi: 10.4055/jkoa.1979.14.1.119
Myotonia is characterized by failure of the voluntary muscles to relax immediately and persistence of contraction following voluntery movement or mechanical and electrical stimulation, Myotonic dystrophy (myotonia dystrophica, myotonia atrophica,... -
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- A Case of Myotonia Dystrophy
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Kwon YB, Lee SK, Ko CJ, Kim KR
- KMID: 1957583
- J Korean Neurol Assoc.
- 1983 Jun;1(1):76-80.
Recently, we experienced a case of myotonia dystrophy at Pediatric department of Yonsei Medical School. And we are presenting the case we experienced with reviewing the literatures. -
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- Myotonia dystrophica: case report of 1 family
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Lee JH, Kim HS, Ahn KH
- KMID: 1688501
- J Korean Acad Rehabil Med.
- 1993 Mar;17(1):134-139.
No abstract available. -
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- Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family with Myotonia Congenita
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Park JS, Hwang SJ, Shin JH
- KMID: 2345247
- J Korean Neurol Assoc.
- 2016 Aug;34(3):220-223.
- doi: 10.17340/jkna.2016.3.10
Myotonia congenita (MC) is a hereditary disease of the chloride channels of skeletal muscle caused by mutation of CLCN1. It characteristically manifests as delayed relaxation of the skeletal muscle or... -
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- A Case of Becker's Type Congenital Myotonia
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Yun SH, Hah JS, Lee J
- KMID: 1969411
- Yeungnam Univ J Med.
- 1999 Jun;16(1):125-130.
- doi: 10.12701/yujm.1999.16.1.125
Congenital myotonia is a hereditary disorder of the skeletal muscle. The most characteristic features of the disease are myotonia and variable muscular hypertrophy. Molecular biologic investigations have revealed that mutations... -
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- Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia
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Kim A, Jang M, Kim HJ, Kim Y, Kim DS, Shin JH, Jeon B
- KMID: 2405203
- J Mov Disord.
- 2018 Jan;11(1):49-51.
- doi: 10.14802/jmd.17056
No abstract available. -
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- A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A
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Chung KW, Yoo DH, Lee SJ, Choi BO, Lee SS
- KMID: 2385120
- J Clin Neurol.
- 2016 Oct;12(4):509-511.
- doi: 10.3988/jcn.2016.12.4.509
No abstract available. -
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- Delayed Relaxation (Pseudomyotonia) as the Only Clinical Manifestation of Chronic Inflammatory Demyelinating Polyneuropathy
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Lee SR, Park SG, Seok JI
- KMID: 2435866
- J Korean Neurol Assoc.
- 2018 Nov;36(4):402-404.
- doi: 10.17340/jkna.2018.4.32
No abstract available. -
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- A Case of Adynamia Episodica Hereditaria
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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... -
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- Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy
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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... -
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- A Case of Acute Colchicine-induced Myopathy with Myotonia in Behcet Disease
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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... -
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- Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features
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Chin HJ, Kim CH, Ha K, Shin JH, Kim DS, So I
- KMID: 2384458
- Korean J Physiol Pharmacol.
- 2017 Jul;21(4):439-447.
- doi: 10.4196/kjpp.2017.21.4.439
Myotonia congenita (MC) is a genetic disease that displays impaired relaxation of skeletal muscle and muscle hypertrophy. This disease is mainly caused by mutations of CLCN1 that encodes human skeletal... -
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- Accidentally Diagnosed Myotonic Dystrophy after Cholecystectomy
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Choi YK, Choi CS, Kim KH, Kim YJ
- KMID: 2040553
- J Korean Surg Soc.
- 2010 Dec;79(Suppl 1):S50-S53.
- doi: 10.4174/jkss.2010.79.Suppl1.S50
Myotonic dystrophy is the most common systemic disease causing myotonia. We report the case of respiratory failure in a patient with myotonic dystrophy after laparoscopic cholecystectomy. We carried out neurologic... -
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- A Case of Adynamia Episodica Hereditaria
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Hu K, Choi IS, Kim KH
- KMID: 1957588
- J Korean Neurol Assoc.
- 1983 Jun;1(1):101-105.
Four members of a family suffering from frequent attacks of flaccid paralysis with asymptomatic myotonia were evaluated. There was an autosomal dominant pattern of inheritance and their earliest symptoms were... -
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- Anesthetic Management of Myotonic Dystrophy: A case report
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Lee BH, Lee JY, Park CH, Kim MK, Lee HR
- KMID: 2299020
- Korean J Anesthesiol.
- 2003 Mar;44(3):414-417.
- doi: 10.4097/kjae.2003.44.3.414
Myotonic dystrophy is a muscle disorder characterized by progressive muscle wasting and weakness associated with myotonia. It is a systemic disease transmitted in an autosomal dominant pattern. Myotonia may be... -
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