Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome-Reference-Cited by-同舟云学术

Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome

Published:2021-04-09 Issue:3 Volume:8 Page:2310-2315
ISSN:2055-5822
Container-title:ESC Heart Failure
language:en
Short-container-title:ESC Heart Failure

Author:

Frustaci Andrea¹²,De Luca Alessandro³,Galea Nicola⁴,Verardo Romina²,Guida Valentina³,Carrozzo Rosalba⁵,Chimenti Cristina¹²,Frustaci Emanuela²,Sansone Luigi⁶,Russo Matteo Antonio⁷

Affiliation:

1. Department of Clinical, Internal, Anesthesiologist and Cardiovascular Sciences Sapienza University Viale del Policlinico 155 Rome 00161 Italy

2. Cellular and Molecular Cardiology Lab IRCCS L. Spallanzani Rome Italy

3. Medical Genetics Division Fondazione IRCSS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy

4. Department of Experimental Medicine Sapienza University Rome Italy

5. Molecular Medicine Laboratory, Department of Neuroscience and Neurorehabilitation IRCCS Bambino Gesù Pediatric Hospital Rome Italy

6. Laboratory of Molecular and Cellular Pathology IRCCS San Raffaele Pisana Rome Italy

7. MEBIC Consortium San Raffaele Open University and IRCCS San Raffaele Pisana Rome Italy

Publisher

Wiley

Subject

Cardiology and Cardiovascular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ehf2.13260

Reference11 articles.

1. Usher syndrome: Definition and estimate of prevalence from two high-risk populations

2. The Myosin Family of Mechanoenzymes: From Mechanisms to Therapeutic Approaches

3. Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy

4. Assaying ATP synthesis in cultured cells: A valuable tool for the diagnosis of patients with mitochondrial disorders

5. Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

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