SHORT COMMUNICATION |
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Year : 2007 | Volume
: 10
| Issue : 3 | Page : 175-177 |
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Nemaline myopathy: A report of four cases
AN Deepti1, N Gayathri1, M Veerendra Kumar2, Susarla K Shankar1
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
 Source of Support: None, Conflict of Interest: None  | Check |
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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