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Sequence analysis of the isovaleryl-CoA dehydrogenase gene in the patient revealing a missense mutation, c.986T>C (p.Met329Thr), and a frameshift mutation, c.1083del (p.Ile361fs*11). The missense mutation was inherited from the patient's father, whereas the frameshift mutation was inherited from his mother. C, codon; T, thymine; C, cytosine; Met, methionine; Thr, threonine; Ile, isoleucine; del, deletion; fs*, frameshift.
