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Please use this identifier to cite or link to this item: http://hdl.handle.net/1807/7795

Title: Case Report - Desmin-related myopathy: Report of a rare case
Authors: Sridhar, E.
Sharma, M. C.
Sarkar, C.
Singh, S.
Das, T.
Keywords: Desminopathy, Desmin-related myopathy, Protein surplus myopathies, Congenital myopathies, Protein aggregating myopathies
Issue Date: 31-Dec-2005
Publisher: Medknow Publications on behalf of the Neurological Society of India
Citation: Neurology India (ISSN: 0028-3886) Vol 53 Num 2
Abstract: The Protein Surplus Myopathies (PSM) are characterized by accumulation of protein aggregates, identifiable ultrastructurally, resulting due to mutations of the encoding genes. Desmin-related myopathies (DRM) are a form of PSM characterized by mutations of the desmin gene resulting in the formation of protein aggregates comprising mutant protein desmin and disturbance of the regular desmin intermediate network in the muscle fibers. We describe a rare case of DRM in a 23-year-old man who presented with complaints of difficulty in climbing stairs and running since the age of 5 years. EMG studies revealed a myopathic pattern. Muscle biopsy showed the features of muscular dystrophy with bluish rimmed vacuoles and sarcoplasmic inclusions, which were immunoreactive to desmin. Ultrastructural examination showed sarcoplasmic bodies and granulofilamentous inclusions. Although rare, the possibility of DRM/desminopathy should be considered in the presence of bluish rimmed vacuoles on light microscopy and characteristic ultrastructural inclusions. To the best of our knowledge this is the first case of DRM/desminopathy reported from India.
URI: http://hdl.handle.net/1807/7795
Other Identifiers: http://www.bioline.org.br/abstract?id=ni05072
Rights: Copyright 2005 Neurology India.
Appears in Collections:Bioline International Legacy Collection

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