- Practical Diagnostic Approach to Myopathy
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Lee JM
- KMID: 2518420
- Korean J Neuromuscul Disord.
- 2021 Jun;13(1):1-3.
- doi: 10.46518/kjnmd.2021.13.1.1
Hereditary myopathy is characterized by the weakness of skeletal muscles and is associated with various genetic defects. The efficiency of a genetic diagnosis has been archived with wide application of... -
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- Diagnostic Approach to the Suspected Cases of Hereditary Spastic Paraplegia
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Choi SJ, Sung JJ
- KMID: 2518421
- Korean J Neuromuscul Disord.
- 2021 Jun;13(1):4-10.
- doi: 10.46518/kjnmd.2021.13.1.4
Hereditary spastic paraplegia (HSP) is a heterogeneous group of monogenic neurodegenerative disorders characterized by progressive spasticity of the lower limbs. The clinical features and imaging abnormalities vary greatly according to... -
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- Statin-Naïve Paraneoplastic Anti-HMGCR Myopathy
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Yung Y, Kim BY, Oh K, Cho JY
- KMID: 2518423
- Korean J Neuromuscul Disord.
- 2021 Jun;13(1):15-19.
- doi: 10.46518/kjnmd.2021.13.1.15
Anti-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase (anti-HMGCR) myopathy is a subtype of immune-mediated necrotizing myopathy regardless of exposure to statins. Necrotizing myopathy is distinguished by necrotic muscle fibers with a relative... -
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- Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course
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Sung W, Kim YE, Kim SH
- KMID: 2518422
- Korean J Neuromuscul Disord.
- 2021 Jun;13(1):11-14.
- doi: 10.46518/kjnmd.2021.13.1.11
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathy caused by (GCN) expansions in the polyalanine binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11. This study reports a case... -
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