The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on muscle biopsy. Although the clinical symptoms may seem homogenous, the genetic basis is remarkably variable. This r...

Central core disease is a rare congenital myopathy characterized by the formation of "cores" that consist of abnormal arrangement of myofibrils inside the myofibers. We report a 5-year-old Korean girl who showed a fairly typical clinical course of non-progressive muscle weakness. Electrodiagnostic studies showed low-amplitude polyphasic electromyograph and normal nerve conduction velocity. Gast...

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Single fibre electromyography in the extensor digitorum communis muscle was studied in five patients with central core disease. The average number of muscle fibre action potentials belonging to the same motor unit was higher in patients than in healthy subjects of the same age. The increase in motor unit fibre density is consistent with increased terminal innervation ratio described in other pa...