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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Detalles Bibliográficos
Autores principales: Jadhav, Khushal B., Karpe, Kedarnath K., Maramattom, Boby V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548385/
https://www.ncbi.nlm.nih.gov/pubmed/23349612
http://dx.doi.org/10.4103/0972-2327.104355

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548385/
https://www.ncbi.nlm.nih.gov/pubmed/23349612
http://dx.doi.org/10.4103/0972-2327.104355

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