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 BRIEF REPORT
Year : 2011  |  Volume : 59  |  Issue : 6  |  Page : 879--883

Congenital myopathies: Clinical and immunohistochemical study


1 Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India
2 Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India

Correspondence Address:
N Gayathri
Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore - 560 029
India
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DOI: 10.4103/0028-3886.91369

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Congenital myopathies (CMs), a group of relatively non-progressive disorders presents with weakness and hypotonia of varying severity, morphologically recognized by specific structural abnormalities within the myofiber. This report presents the clinical and Histopathological features of 40 patients with CMs. Centronuclear myopathy was the commonest (40%) followed by congenital fiber type disproportion (37.5%). Other less common CMs included: myotubular myopathy (5%), nemaline myopathy (5%), central core disease (5%), multicore disease (2.5%) and congenital myopathy with tubular aggregate (5%). Immunolabeling to desmin corresponded to morphological changes within the myofibers while vimentin was negative in all the patients. There is no combined role of these proteins in the disease process.






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Online since 20th March '04
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