Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness.

JurcuT, Ruxandra Oana; Bastian, Alexandra Eugenia; Militaru, Sebastian; Popa, Aura; Manole, Emilia; Popescu, Bogdan Alexandru; Tallila, Jonna; Popescu, Bogdan Ovidiu; Ginghina, Carmen Doina

JurcuT, Ruxandra Oana; Bastian, Alexandra Eugenia; Militaru, Sebastian; Popa, Aura; Manole, Emilia; Popescu, Bogdan Alexandru; Tallila, Jonna; Popescu, Bogdan Ovidiu; Ginghina, Carmen Doina.

Affiliation

JurcuT RO; Department of Cardiology, "Prof. Dr. C. C. Iliescu" Institute of Emergency for Cardiovascular Diseases, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania; rjurcut@gmail.com.

Rom J Morphol Embryol ; 58(1): 225-230, 2017.

Article in En | MEDLINE | ID: mdl-28523323

Subject(s)

Cardiomyopathies/complications; Cardiomyopathies/genetics; Desmin/genetics; Muscle Weakness/complications; Muscle Weakness/genetics; Mutation/genetics; Adult; Cardiomyopathies/diagnostic imaging; Cardiomyopathies/pathology; Electrocardiography; Female; Humans; Muscle Weakness/diagnostic imaging; Muscle Weakness/pathology

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PubMed Links

Database: MEDLINE Main subject: Muscle Weakness / Desmin / Mutation / Cardiomyopathies Type of study: Prognostic_studies Limits: Adult / Female / Humans Language: En Year: 2017 Type: Article

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