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 one case. Muscle biopsy revealed features of dystrophy in all.
Gayathri
N
N
Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India. gayathri@nimhans.kar.nic.in
Taly
A B
AB
Sinha
S
S
Suresh
T G
TG
Gorai
D
D
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
D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin