2006•PubMedRequires access
Emery dreifuss muscular dystrophy: a clinico-pathological study.
Narayanappa Gayathri, A B Taly, Sanjib Sinha, Suresh Tg, D Gorai
Open publisher page 3 citations
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.