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Statin-Naïve Paraneoplastic Anti-HMGCR Myopathy

Yung Y, Kim BY, Oh K, Cho JY

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

Sung W, Kim YE, Kim SH

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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Diagnostic Approach to the Suspected Cases of Hereditary Spastic Paraplegia

Choi SJ, Sung JJ

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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Practical Diagnostic Approach to Myopathy

Lee JM

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 The efficiency of a genetic diagnosis has been archived with wide application of...
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