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Neurology India
Medknow Publications on behalf of the Neurological Society of India
ISSN: 0028-3886
EISSN: 0028-3886
Vol. 54, No. 2, 2006, pp. 197-199
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Bioline Code: ni06058
Full paper language: English
Document type: Research Article
Document available free of charge
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Neurology India, Vol. 54, No. 2, 2006, pp. 197-199
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Case Report - Emery dreifuss muscular dystrophy: A clinico-pathological study
Gayathri N, Taly AB, Sinha S, Suresh TG, Gorai D
Abstract
Emery-Dreifuss muscular dystrophy (EDMD) is a rare and genetically heterogeneous disorder. We report two patients with emerin deficient X-linked EDMD and two probable patients with EDMD with typical early contractures, progressive muscle weakness and cardiac involvement. Family history was noted in one case. Muscle biopsy revealed features of dystrophy in all.
Keywords
Cardiac changes, contractures, Emery-Dreifuss muscular dystrophy
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