Myotubular/centronuclear myopathy and central core disease.
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 review will focus on myotubular myopathy, centronuclear myopathy, central core disease, and congenital neuromuscular disease with uniform Type 1 fiber, myopathies that are subjects of our ongoing examinations.
Fujimura-Kiyono
Chieko
C
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-Cho Kodaira, Tokyo 187-8502, Japan.
Racz
Gabor Z
GZ
Nishino
Ichizo
I
D006801:Humans; D018485:Muscle Fibers, Skeletal / Q000473:pathology*; D020914:Myopathies, Structural, Congenital / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D020512:Myopathy, Central Core / Q000235:genetics / Q000473:pathology / Q000503:physiopathology