Patient 5 was a compound heterozygote for 2 non-ΔGT mutations.

(left panel) The patient and his mother were both heterozygous for a G125 → A transition in exon 2 (arrow) that predicts the amino acid change Arg42 → Gln. (right panel) The patient was also heterozygous for the deletion of G811 (arrow); sequence from normal and mutant alleles can be seen after nucleotide C810. The patient's mother was normal at this position.