- Limb-Girdle Muscular Dystrophy
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Kim NH, Yoon HS
- KMID: 2470476
- Korean J Neuromuscul Disord.
- 2019 Dec;11(2):35-48.
- doi: 10.0000/kjnd.2019.11.2.35
The limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically determined disorders characterized by progressive weakness and atrophy predominantly impacting the shoulder and pelvic girdles. Their classification has... -
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- Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
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Lee Y, Lee JH, Park HJ, Choi YC
- KMID: 2392137
- J Clin Neurol.
- 2017 Oct;13(4):405-410.
- doi: 10.3988/jcn.2017.13.4.405
BACKGROUND AND PURPOSE: The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later... -
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- First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy
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Park HJ, Lee JH, Shin HY, Kim SM, Lee JH, Choi YC
- KMID: 2364931
- J Clin Neurol.
- 2016 Jan;12(1):121-122.
- doi: 10.3988/jcn.2016.12.1.121
No abstract available. -
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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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- Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations
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Kim K, Park HJ, Lee JH, Hong J, Ahn SW, Choi YC
- KMID: 2412662
- Yonsei Med J.
- 2018 Jul;59(5):698-701.
- doi: 10.3349/ymj.2018.59.5.698
Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee... -
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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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- Significance of Immunohistochemical Study in Patients with Muscular Dystrophy
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Kim DS, Park KH, Nam SO, Lee CH, Park KJ
- KMID: 2343114
- J Korean Neurol Assoc.
- 2004 Dec;22(6):613-622.
BACKGROUND: For the differential diagnosis between the various subtypes of muscular dystrophy, the analysis of the protein expression pattern from the biopsied skeletal muscle tissue is essential. Authors performed the... -
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- A familial case of limb-girdle muscular dystrophy with CAV3 mutation
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Lee S, Jang S, Shim Y, Kim WJ, Kim SY, Cho A, Kim H, Kim JI, Lim BC, Hwang H, Choi J, Kim KJ, Chae JH
- KMID: 2470100
- J Genet Med.
- 2019 Dec;16(2):67-70.
- doi: 10.5734/JGM.2019.16.2.67
Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD... -
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- Mutations of CAPN3 in Korean Patients with Limb-Girdle Muscular Dystrophy
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Shin JH, Kim HS, Lee CH, Kim CM, Park KH, Kim DS
- KMID: 1778355
- J Korean Med Sci.
- 2007 Jun;22(3):463-469.
- doi: 10.3346/jkms.2007.22.3.463
The limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessively inherited disease caused by a mutation of the calpain 3 gene (CAPN3), and is considered one of the most prevalent... -
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- Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing
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Park HJ, Choi YC, Kim SM, Kim SH, Hong YB, Yoon BR, Chung KW, Choi BO
- KMID: 2242664
- J Clin Neurol.
- 2015 Apr;11(2):183-187.
- doi: 10.3988/jcn.2015.11.2.183
BACKGROUND: We describe herein the application of whole exome sequencing (WES) for the molecular genetic diagnosis of a large Korean family with dominantly inherited myopathy. CASE REPORT: The affected individuals presented... -
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- Progression of GNE Myopathy Based on the Patient-Reported Outcome
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Park YE, Kim DS, Choi YC, Shin JH
- KMID: 2451109
- J Clin Neurol.
- 2019 Jul;15(3):275-284.
- doi: 10.3988/jcn.2019.15.3.275
BACKGROUND AND PURPOSE: GNE myopathy is a rare progressive myopathy caused by biallelic mutations in the GNE gene, and frequently accompanied by rimmed vacuoles in muscle pathology. The initial symptom... -
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- Heterogeneous Characteristics of Korean Patients with Dysferlinopathy
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Park HJ, Hong JM, Suh GI, Shin HY, Kim SM, Sunwoo IN, Suh BC, Choi YC
- KMID: 2157904
- J Korean Med Sci.
- 2012 Apr;27(4):423-429.
- doi: 10.3346/jkms.2012.27.4.423
Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of... -
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- Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca²⺠signaling of differentiated C2C12 myotubes
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Phuong TT, An J, Park SH, Kim A, Choi HB, Kang TM
- KMID: 2461047
- Korean J Physiol Pharmacol.
- 2019 Nov;23(6):539-547.
- doi: 10.4196/kjpp.2019.23.6.539
Anoctamin 5 (ANO5)/TMEM16E belongs to a member of the ANO/TMEM16 family member of anion channels. However, it is a matter of debate whether ANO5 functions as a genuine plasma membrane... -
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- Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations
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Park HJ, Jang H, Lee JH, Shin HY, Cho SR, Park KD, Bang D, Lee MG, Kim SM, Lee JH, Choi YC
- KMID: 2466367
- Yonsei Med J.
- 2016 Jan;57(1):173-179.
- doi: 10.3349/ymj.2016.57.1.173
PURPOSE: This study was designed to investigate the characteristics of Korean patients with calpainopathy. MATERIALS AND METHODS: Thirteen patients from ten unrelated families were diagnosed with calpainopathy via direct or targeted... -
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- Differential Immunohistological Features of Inflammatory Myopathies and Dysferlinopathy
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Choi JH, Park YE, Kim SI, Kim JI, Lee CH, Park KH, Kim DS
- KMID: 1783127
- J Korean Med Sci.
- 2009 Dec;24(6):1015-1023.
- doi: 10.3346/jkms.2009.24.6.1015
This study was performed in order to characterize the types of the infiltrating cells, and the expression profiles of major histocompatibility complex (MHC) class I and membrane attack complex (MAC)... -
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