- 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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- 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 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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- 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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- 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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- 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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- 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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- The Overlap between Fibromyalgia Syndrome and Myotonia Congenita
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Nam TS, Choi SY, Park DJ, Lee SS, Kim YO, Kim MK
- KMID: 2242665
- J Clin Neurol.
- 2015 Apr;11(2):188-191.
- doi: 10.3988/jcn.2015.11.2.188
BACKGROUND: Fibromyalgia syndrome (FMS) is a complex disorder characterized by chronic widespread pain (CWP), multiple areas of tenderness, sleep disturbance, fatigue, and mood or cognitive dysfunction. Myotonia congenita (MC) is... -
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- Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita
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Moon IS, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS
- KMID: 1783130
- J Korean Med Sci.
- 2009 Dec;24(6):1038-1044.
- doi: 10.3346/jkms.2009.24.6.1038
Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding... -
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- Clinical Characteristics and Analysis of CLCN1 in Patients with "EMG Disease"
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Nam TS, Jung HJ, Choi SY, Kim YO, Kim MK, Cho KH
- KMID: 2287593
- J Clin Neurol.
- 2012 Sep;8(3):212-217.
- doi: 10.3988/jcn.2012.8.3.212
BACKGROUND AND PURPOSE: While the etiology and clinical features of "EMG disease" - which is characterized by diffusely increased insertional activity on needle electromyography (EMG) in the absence of neuromuscular... -
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- Ultrasonography of the Progressive Muscular Disease
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Kang BC, Lee SW, Baek SY, Choi HY, Kim KW, Yu JS
- KMID: 2144434
- J Korean Soc Med Ultrasound.
- 1997 Sep;16(3):277-283.
PURPOSE: To evaluate the ultrasonographic findings of the progressive muscular disease and to correlate the ultrasonographic findings with their clinical functional level and muscle biopy findings. MATERIALS & METHODS: Twenty six... -
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