Table 1.
Gene | No. of affected families | No. of patients |
---|---|---|
DESa | 11 | 18 |
MYOTb | 18 | 24 |
ZASPc | 3 | 7 |
No mutations | 3 | 4 |
Total | 35 | 53 |
DES mutations identified in Spanish families: p.Arg173_Glu179del, p.Asp214_Glu245del, p.Asn366del, p.Ile367Phe, p.Leu370Pro, p.Leu392-Pro, p. Arg406Pro, p.Pro419Ser.
MYOT mutations identified in Spanish families: p.Ser55Phe, p.Ser60-Cys, p.Ser60Phe, p.Lys36Glu.
ZASP mutations identified in Spanish families: p.Ala147Thr, p.Ala165Val.