A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation-Reference-Cited by-同舟云学术

A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation

Published:2020-08-09 Issue:10 Volume:10 Page:
ISSN:2162-3279
Container-title:Brain and Behavior
language:en
Short-container-title:Brain Behav

Author:

You Cuiping¹,Xu Na²,Qiu Shiyan²,Li Yufen²,Xu Liyun²,Li Xia²,Yang Li²^ORCID

Affiliation:

1. Central Laboratory Linyi People's Hospital Linyi China

2. Department of Pediatrics Linyi People's Hospital Linyi China

Funder

China Postdoctoral Science Foundation

Publisher

Wiley

Subject

Behavioral Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/brb3.1791

Reference28 articles.

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2. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

3. Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1

4. Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

5. Long‐term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations;Brito S.;Frontiers in Genetics,2015

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