Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family.
Yazdanpanah
P
P
Department of Physical Medicine and Rehabilitation, Yasuj University of Medical Sciences, Islamic Republic of Iran. parvan1339@yahoo.com
Javan
A
A
Nadimi
B
B
Shirazi
H R Ghaffarian
HR
D017668:Age of Onset; D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D004562:Electrocardiography; D004576:Electromyography; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D050172:Genes, X-Linked / Q000235:genetics; D006801:Humans; D015994:Incidence; D007492:Iran / Q000453:epidemiology; D034904:Lamin Type A / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D009154:Mutation / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D015995:Prevalence; D035583:Rare Diseases
C494847:LMNA protein, human; D034904:Lamin Type A; D008565:Membrane Proteins; D009687:Nuclear Proteins; C092710:emerin