Your browser doesn't support javascript.
loading
Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report.
Li, Xiaojing; Peng, Bingwei; Hou, Chi; Li, Jinliang; Zeng, Yiru; Wu, Wenxiao; Liao, Yinting; Tian, Yang; Chen, Wen-Xiong.
Affiliation
  • Li X; Department of Neurology, Guangdong Province, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9# Jin Sui Road, 510623, Guangzhou, People's Republic of China.
  • Peng B; Department of Neurology, Guangdong Province, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9# Jin Sui Road, 510623, Guangzhou, People's Republic of China.
  • Hou C; Department of Neurology, Guangdong Province, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9# Jin Sui Road, 510623, Guangzhou, People's Republic of China.
  • Li J; Department of Neurology, Guangdong Province, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9# Jin Sui Road, 510623, Guangzhou, People's Republic of China.
  • Zeng Y; Department of Neurology, Guangdong Province, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9# Jin Sui Road, 510623, Guangzhou, People's Republic of China.
  • Wu W; Department of Neurology, Guangdong Province, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9# Jin Sui Road, 510623, Guangzhou, People's Republic of China.
  • Liao Y; Department of Neurology, Guangdong Province, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9# Jin Sui Road, 510623, Guangzhou, People's Republic of China.
  • Tian Y; Department of Neurology, Guangdong Province, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9# Jin Sui Road, 510623, Guangzhou, People's Republic of China.
  • Chen WX; Department of Neurology, Guangdong Province, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9# Jin Sui Road, 510623, Guangzhou, People's Republic of China. gzchcwx@126.com.
BMC Med Genet ; 21(1): 217, 2020 11 05.
Article in En | MEDLINE | ID: mdl-33153448
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Threonine-tRNA Ligase / Developmental Disabilities / Mitochondrial Encephalomyopathies / Mitochondrial Diseases / Epilepsy / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Threonine-tRNA Ligase / Developmental Disabilities / Mitochondrial Encephalomyopathies / Mitochondrial Diseases / Epilepsy / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article