Case Report - Emery dreifuss muscular dystrophy: A clinico-pathological study

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...

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Bibliographic Details
Published in:Neurology India 2006-09, Vol.54 (2)
Main Author: Gayathri N, Taly AB, Sinha S, Suresh TG, Gorai D
Format: Article
Language:English
Subjects:
Cardiac changes, contractures, Emery-Dreifuss muscular dystrophy
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Summary: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.
ISSN:0028-3886