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(A) The child's ETFDH gene has a missense mutation. 413T > G (coding region nucleotide number 413, from T to G) heterozygous nucleotide variation led to amino acid number 138 changing from Leu to Arg (p. Leu138Arg). (B) His father's ETFDH gene did not have the mutation (arrow). (C) His mother's ETFDH gene has the same mutation (arrow).
