Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency

• Main Authors: Pengfei Zhang (Author), Xuyun Hu (Author), Ruolan Guo (Author), Jun Guo (Author), Wei Li (Author), Suyun Qian (Author), Chanjuan Hao (Author), Jun Liu (Author)
• Format: Book
• Published: Wiley, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Importance Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA (HMG‐CoA) synthase deficiency is a rare and underdiagnosed disorder with fewer than 30 patients reported worldwide. The application of whole‐exome sequencing in patients could improve our understanding of this disorder. Objective To id...