Fig. 3From: Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case reportThe spectrum of HMGCS2 mutations in the patient. a: c.100C > A was identified in exon 1 on chromosome 1. b: c:.1464delA was identified in exon 9 on chromosome 1Back to article page