Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement-Reference-Cited by-同舟云学术

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Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement

Published:2019-03-25 Issue:1 Volume:9 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Perli Elena,Pisano Annalinda,Glasgow Ruth I. C.,Carbo Miriam,Hardy Steven A.,Falkous Gavin,He Langping,Cerbelli Bruna,Pignataro Maria Gemma,Zacara Elisabetta,Re Federica,Della Monica Paola Lilla,Morea Veronica,Bonnen Penelope E.,Taylor Robert W.,d’Amati Giulia,Giordano Carla^ORCID

Funder

National Institute of Neurological Disorders and Stroke of the National Institutes of Health

UK NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children

Sapienza Università di Roma

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-019-41483-9.pdf

Reference52 articles.

1. Giordano, C. et al. Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features. Hum Pathol. 44, 1262–1270 (2013).

2. Taylor, R. W. et al. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol. 41, 1786–96 (2003).

3. Bates, M. G. et al. Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management. Eur Heart J. 33, 3023–3033 (2012).

4. Brunel-Guitton, C., Levtova, A. & Sasarman, F. Mitochondrial Diseases and Cardiomyopathies. Can J Cardiol. 31, 1360–1376 (2015).

5. Enns, G. M. Pediatric mitochondrial diseases and the heart. Curr Opin Pediatr. 29, 541–551 (2017).

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