Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy-Reference-Cited by-同舟云学术

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy

Published:2020-12 Issue:2 Volume:42 Page:177-188
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Campbell Teresa¹²,Lou Xiaoting¹³,Slone Jesse¹,Brown Jenice¹,Bromwell Meghan¹,Liu Jie¹,Bai Renkui⁴,Haude Katrina⁴,Balog Amanda⁴,Cui Hong⁴,Zou Weiwei¹⁵,Yang Li¹⁶,Al‐Beshri Ali⁷^ORCID,Huang Taosheng¹^ORCID

Affiliation:

1. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA

2. College of Medicine University of Cincinnati Cincinnati Ohio USA

3. School of Laboratory Medicine and Life Sciences Wenzhou Medical University Wenzhou Zhejiang China

4. GeneDx Gaithersburg Maryland USA

5. Department of Obstetrics and Gynecology, Reproductive Medicine Center The First Affiliated Hospital of Anhui Medical University Hefei China

6. Department of Pediatrics, Xiangya Hospital Central South University Changsha Hunan China

7. Internal Medicine and Medical Genetics University of Alabama at Birmingham Birmingham Alabama USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24143

Reference32 articles.

1. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

2. Prevalence and progression of mitochondrial diseases: A study of 50 patients

3. A new zebrafish model produced by TILLING of SOD1-related amyotrophic lateral sclerosis replicates key features of the disease and represents a tool for in vivo therapeutic screening

4. Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation inMTTL1

5. A splice donor mutation inNAA10results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

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