Fig. 1 Sanger sequencing results of the two pedigrees
A, Sanger sequencing of patient 1 and her parents revealed a de novo DYNC1H1 gene mutation c.1792C>T; B, Sanger sequencing of patient 2 and his parents revealed a de novo DYNC1H1 gene mutation c.790C>G; C, The pathogenicity prediction of the mutations by bioinformatics analysis based on several databases and according to ACMG guidelines.