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Neurology India
Medknow Publications on behalf of the Neurological Society of India
ISSN: 0028-3886
EISSN: 1998-4022
Vol. 56, No. 3, 2008, pp. 325-332
Bioline Code: ni08083
Full paper language: English
Document type: Review Article
Document available free of charge

Neurology India, Vol. 56, No. 3, 2008, pp. 325-332

 en Myotubular/centronuclear myopathy and central core disease
Fujimura-Kiyono, Chieko; Racz, Gabor Z. & Nishino, Ichizo

Abstract

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.

Keywords
Central core disease, centronuclear myopathy, congenital myopathy, congenital neuromuscular disease with uniform Type 1 fibers, myotubular myopathy

 
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