Table 1.
Study characteristics
| Author | Population | Method | Mutation frequency % | Expected mutations | % Found |
|---|---|---|---|---|---|
| Perrot | Kyn/Pol/Ger | SSCP | 7.5 | 67 | 16 |
| Laredo | Spain | SSCP | 11 | 30 | 37 |
| Morita | USA | Seq | 11 | 46 | 19 |
| Van Driest | USA | DHPLC | 15 | 205 | 19 |
| Girolami | Italy | DHPLC | 20 | 68 | 18 |
| Song | China | Seq | 23 | 34 | 44 |
| Richard | Europe | SSCP | 24 | 67 | 57 |
Kyr/Pol/Germ: Kyrgyzstan/Poland/Germany. SSCP: single-strand conformation polymorphism analysis. DHPLC: denaturing high-performance liquid chromatography analysis. Seq: complete sequencing of β-myosin exons. Mutations frequency is expressed as percentage of HCM patients carrying a β-myosin mutation. Expected mutations corresponds to the estimated mean number of mutations. % Found corresponds to the percentage of Expected mutations identified so far.