Jadhav Khushal B, Karpe Kedarnath K, Maramattom Boby V
Department of Neurology, Lourdes Heart Institute and Neuro Center, Kochi, Kerala, India.
Ann Indian Acad Neurol. 2012 Oct;15(4):344-6. doi: 10.4103/0972-2327.104355.
Emery-Dreifuss myopathy can be associated with a cardiomyopathy and cardiac dysrhythmias. The inheritance pattern of Emery-Dreifuss muscular dystrophy (EDMD) is X linked, whereas EDMD2 is autosomal dominant. EDMD2 is caused by lamin A/C gene (LMNA) mutations that produce alterations in the lamin proteins that are integral to nuclear and cell integrity. A 53-year-old man was brought to us with a right internal carotid artery dissection. Detailed work-up of the patient and family members revealed some unusual features, and genetic sequencing of the LMNA gene was undertaken. A novel mutation was identified in two of the samples sent for analysis. We present the first Indian family of EDMD2 with familial dilated cardiomyopathy and cardiac dysrhythmias in whom LMNA gene sequencing was performed. A novel mutation was identified and additional unusual clinical features were described.
埃默里-德赖富斯肌病可伴有心肌病和心律失常。埃默里-德赖富斯肌营养不良症（EDMD）的遗传模式为X连锁，而EDMD2为常染色体显性遗传。EDMD2由核纤层蛋白A/C基因（LMNA）突变引起，该突变会导致对细胞核和细胞完整性至关重要的核纤层蛋白发生改变。一名53岁男性因右侧颈内动脉夹层被送至我院。对该患者及其家庭成员进行的详细检查发现了一些不寻常的特征，并对LMNA基因进行了基因测序。在送去分析的两份样本中发现了一种新的突变。我们报告了首例进行了LMNA基因测序、患有家族性扩张型心肌病和心律失常的印度EDMD2家系。发现了一种新的突变，并描述了其他不寻常的临床特征。
