Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals
نویسندگان
چکیده
1. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 2. Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran. 3. Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran. 4. Electrophysiology and Pacemarker, Cardiology Department, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.
منابع مشابه
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals
No abstract is needed for letter to the editor
متن کاملEmery 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.
متن کاملCardiac involvement in Emery Dreifuss muscular dystrophy: a case series.
Three patients with Emery Dreifuss muscular dystrophy are reported. Emery Dreifuss muscular dystrophy is an X linked muscular dystrophy, in which locomotor involvement is characteristically mild and slowly progressive. The effect on the heart becomes apparent in the teenage years and is characterised by cardiac conduction defects and infiltration of the myocardium by fibrous and adipose tissue....
متن کاملCardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy
The present study aimed to examine and analyze cardiac involvement in two Emery‑Dreifuss muscular dystrophy (EDMD) pedigrees caused by the c.1583 C→G mutation of the lamin A/C gene (LMNA). The clinical and genetic characteristics of members of two families with EDMD were evaluated by performing neurological examinations, skeletal muscle biopsies, cardiac evaluations, including electrocardiograp...
متن کامل