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Causal genes for HCM: genes coding for non-sarcomeric proteins.
| Gene | Symbol | Locus | Frequency | Mutations |
|---|---|---|---|---|
| AMP-activated protein kinase, γ2 regulatory subunit | PRKAG2 | 7q35-q36 | <5% | 3 point and 1 insertion mutations |
| Mitochondrial DNA | MTTI | Mitochondrial | Rare | tRNA Isoleucine and tRNA glycine |
| Frataxin (Friedreich’ ataxia) | FRDA | 9q13 | >200 GAA in intron 1 | |
| Myotonin protein kinase (Myotonic dystrophy) | DMPK | 19q13 | Uncommon | >50 CTG in 3′-UTR |
