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NM II Mutation and Disease. MYH9-RD mutation list is updated from a previous review.3 *Deletion of two different nucleotides causes D1925fs; del, deletion; dup, duplication; fs, frame shift. Clinical features other than macrothrombocytopenia and Dohle body inclusion are marked: d, deafness; n, nephritis; c, cataracts. Mutations in MYH14 result in deafness. Mutations in MYH10 are associated with congenital diaphragmatic hernia.
