| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSP | 18 | L839fsX862 | c.2516_2519delACTC | p.His839LeufsX24 |
0/0
| DCM; Carvajal-like: wooly hair; palmoplantar keratoderma | 0 | compound heterozygote: DSP L839fsX862 and R1324fsX1347 |
Mutation details
|
| DSP | 23 | R1324fsX1347 | c.3971_3974delATAA | p.Asn1324ArgfsX24 |
0/0
| DCM; palmoplantar keratoderma and wooly hair | 0 | compound heterozygote: DSP L839fsX862 and R1324fsX1347 |
Mutation details
|