Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report

BACKGROUND: Mitochondrial encephalomyopathy caused by bi-allelic deleterious variants in TARS2 is rare. To date, only two pedigrees were reported in the literature and the connection between the gene and disease needs further study. CASE PRESENTATION: We report one infant who presented with limb hyp...

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Detalles Bibliográficos
Autores principales: Li, Xiaojing, Peng, Bingwei, Hou, Chi, Li, Jinliang, Zeng, Yiru, Wu, Wenxiao, Liao, Yinting, Tian, Yang, Chen, Wen-Xiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7643390/
https://www.ncbi.nlm.nih.gov/pubmed/33153448
http://dx.doi.org/10.1186/s12881-020-01149-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7643390/
https://www.ncbi.nlm.nih.gov/pubmed/33153448
http://dx.doi.org/10.1186/s12881-020-01149-0

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