- Tubular Aggregate Myopathy: A Case Report
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Suh YL, Kim NR
- KMID: 1099811
- J Korean Med Sci.
- 2003 Feb;18(1):135-140.
- doi: 10.3346/jkms.2003.18.1.135
We report a first Korean case of presumably dominantly inherited primary tubular aggregate myopathy in a 19-yr-old man, who presented with slowly progressive proximal muscle stiffness and weakness. In hematoxylin... -
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- Autosomal Dominant Centronuclear Myopathy with Unique Clinical Presentations
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Lee JY, Min JH, Hong YH, Sung JJ, Park SH, Park SH, Lee KW, Park KS
- KMID: 1785779
- J Korean Med Sci.
- 2007 Dec;22(6):1098-1101.
- doi: 10.3346/jkms.2007.22.6.1098
Centronuclear myopathies are clinically and genetically heterogenous diseases with common histological findings, namely, centrally located nuclei in muscle fibers with a predominance and hypotrophy of type 1 fibers. We describe... -
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- A Case of Centronuclear Myopathy
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Kim YH, Kwon YS, Lim DH, Jun YH, Kim SK, Hong YJ, Son BK, Han HS
- KMID: 2207186
- J Korean Pediatr Soc.
- 2002 Sep;45(9):1170-1174.
Centrinuclear myopathy, an uncommon condition, is one of the congenital myopathies. It is characterized by the presence of central nuclei of muscle cells which can be detected on electronmicroscopy. It... -
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- Myopathy with Congenital Fiber Type Disproportion (CFTD): A case report
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Park CI, Cho SR, Na SI, Moon JY, Kim TS, Lim BJ
- KMID: 2136625
- J Korean Acad Rehabil Med.
- 2002 Aug;26(4):485-488.
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- Comparison of Clinical Characteristics Between Congenital Fiber Type Disproportion Myopathy and Congenital Myopathy with Type 1 Fiber Predominance
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Na SJ, Kim WK, Kim TS, Kang SW, Lee EY, Choi YC
- KMID: 1779501
- Yonsei Med J.
- 2006 Aug;47(4):513-518.
- doi: 10.3349/ymj.2006.47.4.513
Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness and specific structural changes in muscle fiber. Congenital myopathy with fiber type disproportion (CFTD) is an established... -
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- A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3 (TPM3) Gene Presenting as Altered Mentality with Respiratory Distress
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Namgung DW, Hong JM, Lee JH, Park HJ, Choi YC
- KMID: 2454845
- J Korean Neurol Assoc.
- 2019 May;37(2):174-177.
- doi: 10.17340/jkna.2019.2.10
Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent... -
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- A Case of Congenital Fiber Type Disproportion Associated with External Ophthalmoplegia
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Jo JW, Cho HJ, Kim DS, Jung DS, Park KH, Lee CH
- KMID: 2343130
- J Korean Neurol Assoc.
- 2004 Dec;22(6):683-685.
Congenital fiber type disproportion (CFTD) is a form of congenital myopathy characterized by histologic findings of the smallness of type 1 fiber and type 1 fiber predominance. It is usually... -
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- A Case of Centronuclear Myopathy
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Kim HK, Ryu WS, Hong YH, Sung JJ, Park KS, Park SH, Lee KW
- KMID: 2065614
- J Korean Neurol Assoc.
- 2006 Oct;24(5):491-494.
Centronuclear myopathy is a rare congenital myopathy, which is characterized by centrally located nuclei and hypotrophy or predominance of type 1 fibers in muscle pathology. It is classified into three... -
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- Myotubular myopathy: A case report
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Chi JG
- KMID: 2274860
- Korean J Pathol.
- 1986 Sep;20(3):328-331.
A case of a myotubular myopathy in a 5 year old boy is described. This was the first and the only boy to a 30 year old mother who had... -
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- A Case of Adult-Onset Centronuclear Myopathy
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Na SJ, Kim TS, Choi YC
- KMID: 2428337
- Yonsei Med J.
- 2004 Apr;45(2):352-355.
Centronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Based on the time of onset and the mode of inheritance,... -
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- Familial Myotubular Myopathy Occurred in a Sibling
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Hwang H, Kwon HJ, Chai JH, Kim KJ, Hwang YS
- KMID: 2007336
- J Korean Child Neurol Soc.
- 2001 Oct;9(2):425-429.
Myotubular or centronuclear myopathy(MTM) is a rare congenital myopathy, which is characterized by predominance and atrophy of type 1 fibers and centrally located nuclei in muscle pathology. The clinical features... -
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- Congenital Fiber Type Disproportion Myopathy: A case report
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Park SH, Kim KK, Kang SY, Kang SK
- KMID: 1725541
- Korean J Pathol.
- 1999 Apr;33(4):303-306.
Authors report a typical case of congenital fiber type disproportion (CFTD) with unique clinicopathologic characteristics. The patient was a 13-year-old boy who presented with weakness of lower extremities, especially proximal... -
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- A Case of Congenital Fiber Type Disproportion with Multiple Anomalies
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Seo SY, Lee YM, Kim SH, Kim TS, Lee JS, Kim HD
- KMID: 2329587
- J Korean Child Neurol Soc.
- 2006 Nov;14(2):328-332.
Congenital fiber type disproportion (CFTD) is a rare form of congenital myopathy characterized by the smallness and the marked predominance of type 1 fibers, which presents congenital hypotonia, delayed motor... -
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- A Double Mutation of the Ryanodine Receptor Type 1 Gene in a Malignant Hyperthermia Family with Multiminicore Myopathy
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Jeong SK, Kim DC, Cho YG, Sunwo IN, Kim DS
- KMID: 2287676
- J Clin Neurol.
- 2008 Sep;4(3):123-130.
- doi: 10.3988/jcn.2008.4.3.123
BACKGROUND AND PURPOSE: At least 100 Ryanodine receptor type 1 (RYR1) mutations associated with malignant hyperthermia (MH) and central core disease (CCD) have been identified, but 2 RYR1 mutations accompanying... -
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- X-linked recessive myotubular myopathy with MTM1 mutations
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Han YM, Kwon KA, Lee YJ, Nam SO, Park KH, Byun SY, Kim GH, Yoo HW
- KMID: 2284286
- Korean J Pediatr.
- 2013 Mar;56(3):139-142.
- doi: 10.3345/kjp.2013.56.3.139
X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males.... -
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- A family with dynamin 2-related centronuclear myopathy without ocular involvement
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Park JS, Kim DS, Shin JH
- KMID: 2327704
- J Genet Med.
- 2016 Jun;13(1):51-54.
- doi: 10.5734/JGM.2016.13.1.51
Centronuclear myopathy (CNM) is a rare congenital myopathy that is pathologically characterized by the centrally locatednuclei in most of the muscle fibers. On clinical examination, dynamin 2 (DNM2)-related CNM typically... -
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- X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation
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Jeon JH, Namgung R, Park MS, Park KI, Lee C, Lee JS, Kim SH
- KMID: 1777032
- Yonsei Med J.
- 2011 May;52(3):547-550.
- doi: 10.3349/ymj.2011.52.3.547
X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder... -
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- Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations
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Lee EH, Yum MS, Park SJ, Lee BH, Kim GH, Yoo HW, Ko TS
- KMID: 2287572
- J Clin Neurol.
- 2013 Jan;9(1):57-60.
- doi: 10.3988/jcn.2013.9.1.57
BACKGROUND: Myotubular myopathy (MTM) is a congenital myopathy characterized by centrally placed nuclei in muscle fibers. Mutations in the myotubularin 1 gene (MTM1) have been identified in the most of... -
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- A Case of Myotubular Myopathy
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Yang PS, Yoo JH, Choi BK, Lee YA, Heo KY, Hwang KG
- KMID: 2099047
- J Korean Soc Neonatol.
- 2002 Nov;9(2):226-230.
The term myotubular myopathy (MTM) implies a maturational arrest of fetal muscle during the myotubular stage of development at 8-15 weeks of gestation. Characteristic muscle histopathology consists of small hypotrophic... -
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- Diagnostic classification and clinical aspects of floppy infants in the neonatal and pediatric intensive care units
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Kim ES, Jung KE, Kim SD, Kim EK, Chae JH, Kim HS, Park JD, Kim KJ, Kim BI, Hwang YS, Choi JH
- KMID: 2280062
- Korean J Pediatr.
- 2006 Nov;49(11):1158-1166.
- doi: 10.3345/kjp.2006.49.11.1158
PURPOSE: The purpose of this study is to make a diagnostic classification and discuss a diagnostic strategy of floppy infants by investigating clinical, neurological, electrophysiological, and genetic analysis of infants... -
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