Table 1

Studies selected for pooled analyses. Frequency of mutations in each sarcomere gene and sequencing methodology for each study

CohortN patientsN genesSarcomeric positive (%)MYBPC3 (%)MYH7 (%)TNNT2 (%)TNNI3 (%)MYL2 (%)MYL3 (%)ACTC1 (%)TPM1 (%)Sequencing methodology
Richard et al3519796326.425.4442.50.500SSCP+DS
Morner et al3646828202.2*02.22.2000SSCP /DHPLC
Erdmann et al37108633.318.513* or RFLP
Van Driest et al38–41389837.718.
Olivotto et al4220386234173.50.493.50.490.99DHPLC+DS+RFLP
Garcia-Castro et al43120526.71680.800.8DS
Andersen et al4490113610102.
Laredo et al+Rodriguez-Garcia et al45 46130223158SSCP+DS+RFLP
Millat et al4719244825123.13.1DHPLC+DS
Waldmuller et al482362412417DS
Brito et al49775533511.76.52.60DS
Gruner et al5047183514.913.62.30.850.
Zou et al51200851182643.511.51.51.5DS
  • *Indicates that only part of the gene was sequenced.

  • DHPLC, denaturing high performance liquid chromatography  DS, direct sequencing; RFLP, restriction fragment length polymorphism; SSCP, single strand conformation polymorphism.