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DNA sequence analysis for the proband II:1 showed the presence of compound heterozygous c.721 C>T (p.Arg241Cys) and c.1969 C>T (p.Arg657Trp) mutations. A and B showed mutant and wild type sequences of c.721C (p.Arg241) in MYO7A, respectively. C and D showed mutant and wild type sequences of c.1969 C (p.Arg657) in MYO7A, respectively. MT: Mutant type; WT: Wild type.
