Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T

Figure 1

Novel MCADD mutation. (a) MCADD family pedigree. The proband (I-1) is indicated by a black arrow. The father (I-2) is a carrier as indicated by the dot in the center of the square. All affected individuals are indicated by filled circles (females) or squares (males). (b) DNA sequencing results. ACADM sequence analysis revealed a heterozygous sequence change of c.1052C>T, p.Thr326Ile in addition to the common mutation p.Lys304Glu in patient I-1. Blue arrows indicate the sequence change in patient I-1.

(a)

(b)