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Rippling muscle disease (RMD) is caused by dominant mutations of the caveolin-3 gene (CAV3), and presents with overlapping limb-girdle muscle weakness, elevated creatine kinase (hyper- CKemia), RMD, and distal myopathy....
Paramyotonia congenita (PMC) is characterized by nondystrophic myotonia aggravated by exercise and cold exposure. SCN4A mutations manifest as various phenotypes of channelopathy, including PMC, myotonia congenita, and periodic paralysis. SCN4A-related...
We report a patient diagnosed with a germ-cell tumor presenting with spinal muscular atrophy with lower limb predominance (SMA-LED) caused by a DYNC1H1 genetic variant. His clinical and electrophysiologic phenotype...
Background: Resistance training for leg muscles is recommended for patients with postural tachycardia syndrome (POTS). However, no study has characterized the relationships between orthostatic symptoms, heart rate (HR) increase, and...
Background: This study aimed to determine the characteristics of computed tomography perfusion (CTP) patterns and their utility in predicting antiseizure medication (ASM) resistance in patients with nonconvulsive status epilepticus (NCSE).
Methods:...
The vestibular cortex is a distributed network of multisensory areas that plays a crucial role in balance, posture, and spatial orientation. The core region of the vestibular cortex is the...