- A Case of the Oculopharyngeal Muscular Dystrophy
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Lee JB, Kim KC, Bum SG
- KMID: 2336426
- J Korean Ophthalmol Soc.
- 1987 Apr;28(2):489-494.
The oculopharyngeal muscular dystrophy is a distinct, clinically well-defined myopathy of later life inherited in an autosomal dominant fashion with complete penetrance. Blepharoptosis, dysphagia, lower leg weakness are the most... -
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- Progressive Muscular Dystrophy (Report of 32 cases)
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Kim YJ, Maing KY, Lim JK, Seong BY
- KMID: 2460651
- J Korean Orthop Assoc.
- 1979 Mar;14(1):113-118.
- doi: 10.4055/jkoa.1979.14.1.113
Progressive muscular dystrophy is a genetically determined myopathy of unknown etiology and is a primary degenerative disease of skeletal muscle fibers. The authors reviewed 32 cases of progressive muscular dystrophy... -
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- Molecular and Pathological Diagnosis of Muscular Dystrophies
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Choi YC
- KMID: 2053704
- Hanyang Med Rev.
- 2006 Feb;26(1):77-93.
The muscular dystrophies are a diverse group of inherited muscle disorders characterized by progressive muscle weakness and wasting with characteristic histologic abnormalities such as degeneration, necrosis, and regeneration of muscle... -
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- A Case of Type III Proximal Spinal Muscular Atrophy Distinguished from Distal Spinal Muscular Atrophy: A case report
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Kim HS, Lee SC, Cho SK, Park YB, Lee SH, Moon JH, Park YG
- KMID: 2324437
- J Korean Acad Rehabil Med.
- 2007 Feb;31(1):113-118.
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by progressive anterior horn cell degeneration leading to motor weakness, muscular atrophy and denervation. Recently, the genes responsible for proximal muscular... -
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- Two Cases of Cataract in Two Sisters with Myotonic Dystrophy
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Chung YT
- KMID: 2022697
- J Korean Ophthalmol Soc.
- 1998 Feb;39(2):419-423.
Myotonic dystrophy is a muscular disease that is transmitted in autosomal dominant pattern. Typical features are myotonicity due to defective muscular relaxation after its contraction and muscular dystrophy. Ophthalmologic complications... -
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- Histopathologic study on muscle diseases among Koreans (274 muscle biopsy analysis)
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Chi JG, Koo HS, Roh JK
- KMID: 1421449
- J Korean Med Sci.
- 1989 Mar;4(1):55-61.
- doi: 10.3346/jkms.1989.4.1.55
All the diagnostic muscle biopsy cases were collected from the file of Department of Pathology, Seoul National University Hospital during June 1976 to December 1978. Slides were reviewed and correlated... -
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- A Case of Atypical Polymyositis Diagnosed as Muscular Dystrophy on Muscle Biopsy
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Kim YJ, Cho TY, Sunwoo IN, Kim TS, Lee SA
- KMID: 1686399
- J Korean Neurol Assoc.
- 1992 Dec;10(4):566-569.
Though the polymyositis, one of the common adult-onset myopathy, is treatable, the diverse clinical manifestation and course sometimes lead the clinician to incorrect diagnosis. Here we report a case of... -
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- Deletion of Exon in the Dystrophin Gene in a Case of Becker Muscular Dystrophy with Cardiac Involvement
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Kim KI, Oh BH, Rhee MY, Chae IH, Shin S, Park SS, Kim HS, Sohn DW, Lee MM, Park YB, Choi YS, Lee YW
- KMID: 2229096
- Korean Circ J.
- 1998 May;28(5):805-811.
- doi: 10.4070/kcj.1998.28.5.805
Progressive muscular dystrophy (PMD) is an X-linked recessive primary muscular disease characterized by progressive muscular weakness. It causes gait disturbance and complications such as pneumonia, heart failure, and aspiration, so... -
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- Ultrasound Findings in Duchenne Muscular Dystrophy Disease
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Na YM, Bae KJ, Kang SW, Kim MY, Kang BC
- KMID: 2323016
- J Korean Acad Rehabil Med.
- 1997 Jun;21(3):572-578.
The real-time ultrasonography is a simple, noninvasive procedure that is most suitable for application in pediatric practice. The ultrasonographic appearance of various disorders in children such as progressive muscular dystrophies,... -
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- Diagnostic Significance of Immunohistochemical Staining in Muscular Dystrophy
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Kim DS
- KMID: 1957670
- J Korean Neurol Assoc.
- 2006 Feb;24(1):1-13.
Muscular dystrophy (MD) is a heterogeneous group of inherited muscle disorders caused by the mutations of different genes encoding muscle proteins, and it is now classified according to the results... -
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- Stroke in a Man with Myotonic Muscular Dystrophy : A case report
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Kim DY, Park CI, Ohn SH, Yang EJ
- KMID: 2324386
- J Korean Acad Rehabil Med.
- 2006 Dec;30(6):665-669.
Myotonic dystrophy is the most common autosomal dominant myopathy in adults. It is a disorder with multisystemic clinical features affecting the skeletal muscle, the heart, the eye, and the endocrine... -
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- Immunohistochemical Staining with Anti-Torpedo Dystrophin Antibody in Duchenne Type Muscular Dystrophy
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Kim SY, Lee KW, Cha CI
- KMID: 2065956
- J Korean Neurol Assoc.
- 1993 Mar;11(1):68-77.
Duchenne Muscular dystrophy(DMD) is a debilitating X-linked muscle disease and dyskophin is a muscle membrane protein, which is recently discovered through reverse genetics by Kunkel et al(1987). We evaluate the... -
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- A Family of Bethlem Myopathy Caused by a Heterozygous COL6A1 Mutation
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Park YE, Son HJ, Lee CH, Shin JH, Kim DS
- KMID: 2436082
- J Korean Neurol Assoc.
- 2018 Aug;36(3):215-219.
- doi: 10.17340/jkna.2018.3.16
Collagen-VI-related myopathies are caused by mutations in the COL6A1, COL6A2, and COL6A3 and are known to have a wide phenotypic spectrum, including Bethlem myopathy, Ullrich congenital muscular dystrophy, intermediate phenotype,... -
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- An Isolated AST Elevation due to Macroenzyme Formation
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Kim HO, Choi CS, Sohn JH, Sohn YW, Han DS, Jeon YC, Choi HS, Hahm JS, Lee MH, Park KN, Kee CS, Kim DA
- KMID: 1855230
- Korean J Hepatol.
- 1999 Mar;5(1):50-54.
Serum aspartate aminotransferase (AST) is a common enzyme for the evaluation of the hepatic, muscular and cardiac diseases and is produced also at kidney, brain, pancreas, lung, leukocytes, erythrocytes, etc. The elevation... -
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- Duchenne Muscular Dystrophy in a Girl with Turner Syndrome: A case report
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Yang MS, Lee DK, Oh KY, Choi KS, Lee KH
- KMID: 2324271
- J Korean Acad Rehabil Med.
- 2005 Oct;29(5):537-540.
Duchenne Muscular Dystrophy (DMD) is an X-linked, recessive disorder characterized by progressive muscular weakness, Gower sign, waddling gait and pseudohypertrophy of the calf muscles. Little is reported about DMD manifestations... -
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- A Case of Incontinentia Pigmenti with Destructive Encephalopathy
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Han JK, Choi JC, Park MK, Park KW, Eun BL, Chung JT, Lee DH
- KMID: 2342736
- J Korean Neurol Assoc.
- 1998 Oct;16(5):739-742.
Becker muscular dystrophy is a X-linked recessive disease with the affected gene at locus Xp21, characterized by progressive muscular weakness. Without the definite family history, it has been known that... -
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- Myopathy Following Ingestion of Ma-huang (Ephedra)-based Herbal Remedy
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Baek JH, Suh BC, Kim YB, Chung PW, Moon HS, Jin DK, Kim BJ, Park YS
- KMID: 2191931
- J Korean Neurol Assoc.
- 2009 Nov;27(4):424-427.
Ma-huang (Ephedra sinica) is a herb that exhibits sympathomimetic activity. We report a patient with acquired myopathy following ingestion of a Ma-huang-based herbal remedy for 6 months. A 50-year-old woman... -
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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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- Emery Dreifuss muscular Dystrophy: A case report
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Lee KM, Lee JH
- KMID: 2323733
- J Korean Acad Rehabil Med.
- 2002 Feb;26(1):99-103.
Emery-Dreifuss muscular dystrophy(EDMD) is a very rare, has never reported in Korea, relatively benign muscle disorder caused by defects of emerin. The clinical triad include 1) early contracture of the... -
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- A case of anterior tibial compartment syndrome induced by bilateral diabetic muscular infarction in hypothyroid state
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Cho YK, Chung JS, Lee JM, Kho SH, Yoon KH, Cha BY, Son HY
- KMID: 2080819
- Korean J Med.
- 2001 Sep;61(3):307-312.
Acute compartment syndrome is usually caused by local vascular and traumatic involvement. Thyroid disease is not a common cause of compartment syndrome and only two cases of spontaneous compartment syndrome... -
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