- Electromyographic & clinical features of nemaline myopathy
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Han TR, Kim JH, Chung SG, Lee JM
- KMID: 1688059
- J Korean Acad Rehabil Med.
- 1991 Jun;15(2):92-99.
No abstract available. -
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- Nemaline Myopathy Presenting as Adult-onset Distal Myopathy
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Park KH, Sohn SY, Shin JY, Kim JS, Park SH, Kim JS, Sung JJ
- KMID: 2328828
- Korean J Clin Neurophysiol.
- 2016 Jun;18(1):31-33.
- doi: 10.14253/kjcn.2016.18.1.31
No abstract available. -
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- A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions
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Ueda K, Serajee F, Huq AM
- KMID: 2391677
- J Clin Neurol.
- 2017 Jul;13(3):300-302.
- doi: 10.3988/jcn.2017.13.3.300
No abstract available. -
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- A Case of Adult Onset Nemaline Myopathy with Selective Respiratory Muscle Weakness
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Park SG, Kim JH, Chu MK, Lee JR, Kim SH, Kim SM, Sunwoo IN
- KMID: 2065469
- J Korean Neurol Assoc.
- 2000 Sep;18(5):672-676.
Nemaline myopathies, originally reported as a type of congenital myopathy, are clinically and genetically heterogenous diseases. Clinically, nemalin myopathies can be divided into infantile, juvenile and adult forms, and genetically,... -
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- A Familial Nemaline Myopathy
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Hong TY, Park JH, Kim HD, Kang HT, Cho HJ, Sunwoo IN, Kim TS
- KMID: 1957368
- J Korean Neurol Assoc.
- 1993 Dec;11(4):607-613.
Nemaline myopathy is a rare congenital m opathy, characterized by nonprogressive or slowely progressive muscle weakness associated with rod-like structures in muscle fibers and characteristic dysmorphic features. We report the... -
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- Anesthetic Experience of the Patient with Nemaline Myopathy: A case report
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Choi JW, Lee JY, Lee HJ, Chon JY, Hong SJ, Moon SH
- KMID: 1936312
- Korean J Anesthesiol.
- 2000 May;38(5):940-943.
- doi: 10.4097/kjae.2000.38.5.940
Nemaline rod myopathy is an autosomal dominant disease characterized by nonprogressive symmetric skeletal muscle weakness affecting principally proximal skeletal muscles. Anesthesia of the patient with this disease is... -
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- A Case of Nemaline Myopathy
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Kim BJ, Choi IJ, Kim DS, Nam SO
- KMID: 2207358
- J Korean Pediatr Soc.
- 2001 Oct;44(10):1182-1186.
Childhood onset nemaline myopathy, first described in 1963 by Shy, et al and Conen, et al, is rare congenital myopathy, characterized by nonprogressive or slowly progressive muscle weakness associated with... -
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- Clinical Heterogeneity in Korean Patients with Nemaline Myopathy
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Hong JM, Kim SM, Sunwoo IN, Kim SH, Kim TS, Shim DS, Choi YC
- KMID: 1126022
- Yonsei Med J.
- 2010 Mar;51(2):225-230.
- doi: 10.3349/ymj.2010.51.2.225
PURPOSE: Nemaline myopathy (NM) is a clinical heterogeneous congenital myopathy characterized by the presence of subsarcolemmal or cytoplasmic rod-like structures that call nemaline bodies in the muscle fibers. The purpose... -
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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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- Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves
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Finsterer , Stöllberger C
- KMID: 2344462
- Korean Circ J.
- 2016 Mar;46(2):117-134.
- doi: 10.4070/kcj.2016.46.2.117
Little is known regarding cardiac involvement (CI) by neuromuscular disorders (NMDs). The purpose of this review is to summarise and discuss the major findings concerning the types, frequency, and severity... -
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