An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation

An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation

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 pro...

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Detaylı Bibliyografya
Asıl Yazarlar: Khushal B Jadhav, Kedarnath K Karpe, Boby V Maramattom
Materyal Türü: Makale
Dil:English
Baskı/Yayın Bilgisi: Wolters Kluwer Medknow Publications 2012-01-01
Seri Bilgileri:Annals of Indian Academy of Neurology
Konular:
Calcified AV node
cardiac conduction system calcification
cardiomyopathy
EDMD
familial DCM
LMNA mutation
myopathy
Online Erişim:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2012;volume=15;issue=4;spage=344;epage=346;aulast=Jadhav

Internet

http://www.annalsofian.org/article.asp?issn=0972-2327;year=2012;volume=15;issue=4;spage=344;epage=346;aulast=Jadhav

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