Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy

Molecular Genetics & Genomic Medicine

Ke Gong¹  Li Xie¹  Zhong‐shi Wu¹  Jin‐Lan Chen¹  Xia Xie¹  Xing‐xing Zhang² 

[1] Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Central South University, Changsha, China;Department of Pediatrics, The Second Xiangya Hospital of Central South University, Central South University, Changsha, China;

关键词: clinical exome sequencing;    Guillain–Barré syndrome;    Leigh syndrome;    neurodegenerative disease;    PDHA1;   

DOI  :  10.1002/mgg3.1651

来源: Wiley

【 授权许可】

CC BY