Fig. 2
Mutations identified in the patient by sequencing of ACADM. a, Heterozygote for 4-bp deletion c.449_452delCTGA in exon 6 resulting in a frameshift. b, Heterozygote for 843A>T (p.R281S) in exon 9.
Fig. 2 | Genetics in Medicine
Mutations identified in the patient by sequencing of ACADM. a, Heterozygote for 4-bp deletion c.449_452delCTGA in exon 6 resulting in a frameshift. b, Heterozygote for 843A>T (p.R281S) in exon 9.
