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

• Autori principali: Pengfei Zhang (Autore), Xuyun Hu (Autore), Ruolan Guo (Autore), Jun Guo (Autore), Wei Li (Autore), Suyun Qian (Autore), Chanjuan Hao (Autore), Jun Liu (Autore)
• Natura: Libro
• Pubblicazione: Wiley, 2019-06-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...