The second group, novel PTVs, comprised 27 variants in 27 carriers and yielded four individuals: three with hypobetalipoproteinemia, all with various novel truncating mutations in APOB, and one individual with hypertrophic cardiomyopathy and frameshift deletion in MYH7 (Table 6). This evidence concerns the gene MYH7 and hypertrophic cardiomyopathy.