Emery dreifuss muscular dystrophy: a clinico-pathological study.

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.
Authors	N Gayathri, A B Taly, S Sinha, T G Suresh, D Gorai
Journal	Neurology India (Neurol India) Vol. 54 Issue 2 Pg. 197-9 (Jun 2006) ISSN: 0028-3886 [Print] India
PMID	16804269 (Publication Type: Journal Article)
Chemical References	Membrane Proteins Nuclear Proteins Thymopoietins emerin
Topics	Adolescent Adult Humans Male Membrane Proteins (deficiency, genetics) Muscle, Skeletal (pathology) Muscular Dystrophy, Emery-Dreifuss (diagnosis, genetics, pathology) Nuclear Proteins Phenotype Thymopoietins (deficiency, genetics)

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