Annals of Indian Academy of Neurology
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SHORT COMMUNICATION
Year : 2007  |  Volume : 10  |  Issue : 3  |  Page : 175-177

Nemaline myopathy: A report of four cases


1 Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India
2 Department of Neurology, 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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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.34798

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Nemaline myopathies are a group of genetically determined (autosomal dominant/recessive) congenital myopathies characterized by the formation of nemaline rods within muscle fibers. Congenital, childhood, and adult forms with hypotonia, proximal muscle and facial weakness, and skeletal deformities have been described. The diagnostic hallmark is the presence of nemaline rods on modified Gomori's trichrome staining. We report the clinical and morphological features of four patients with nemaline rod myopathy: congenital classic (2), childhood (1), and adult (1), and speculate on the disease's evolution.


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