title: 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.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India. gayathri@nimhans.kar.nic.in
authors.forename: N
authors.initials: N
authors.lastname: Gayathri
authors.forename: A B
authors.initials: AB
authors.lastname: Taly
authors.forename: S
authors.initials: S
authors.lastname: Sinha
authors.forename: T G
authors.initials: TG
authors.lastname: Suresh
authors.forename: D
authors.initials: D
authors.lastname: Gorai
mesh_terms: D000293:Adolescent; D000328:Adult; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D009687:Nuclear Proteins; D010641:Phenotype; D013946:Thymopoietins / Q000172:deficiency / Q000235:genetics
chemical_list: D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin