Fig. 1 | Genetics in Medicine

Fig. 1

From: Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

Fig. 1

Family 1: The mother is compound heterozygous for the c.1195C>T (p.R399W) and the c.1324_1325GC>AT (p.A442I). The infant and her brother are heterozygous for c.1195C>T (p.R399W), whereas the sister is heterozygous for c.1324_1325GC>AT (p.A442I). Family 2: The mother is compound heterozygous for c.136C>T (p.P46S) and c.695C>T (p.T232M). Family 3: The infant and the mother are compound heterozygous for c.248G>T (p.R83L) and c.641C>T (p.A214V). The father is heterozygous for the missense mutation c.248G>T (p. R83L). Family 4: The mother is homozygous for the c.43G>T (p.G15W). Family 5: The mother is compound heterozygous for c.136C>T (p.P46S) and c.424G>T (p.A142S). NT: not tested.

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