Mutation analysis of TNNI3 by direct sequencing identified a 87A→G nucleotide substitution of exon 8 resulting in an Asp190Gly amino acid substitution that segregated with the disease in the family (maximal two-point lode score: 4.8).Direct sequencing of TNNI3 identified a 93G→A nucleotide substitution of exon 8, which resulted in an Arg192His amino acid substitution.
