A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4-Reference-Cited by-同舟云学术

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

Published:2019-03-22 Issue:6 Volume:64 Page:589-595
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Hershkovitz Tova, ,Kurolap Alina,Gonzaga-Jauregui Claudia^ORCID,Paperna Tamar,Mory Adi,Wolf Sarah E.,Overton John D.,Shuldiner Alan R.,Saada Ann,Mandel Hanna,Baris Feldman Hagit

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0592-6.pdf

Reference23 articles.

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3. Pearce S, Nezich CL, Spinazzola A. Mitochondrial diseases: translation matters. Mol Cell Neurosci. 2013;55:1–12.

4. Brunel-Guitton C, Levtova A, Sasarman F. Mitochondrial diseases and cardiomyopathies. Can J Cardiol. 2015;31:1360–76.

5. Cooper GM, Stone EA, Asimenos G, Green ED, Batzoglou S, Sidow A. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 2005;15:901–13.

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