Jäsemevöötme lihasdüstroofia paneeli
mittekodeerivad geneetilised variandid
Geen | Muutus |
CAPN3 | c.-188G>C |
DYSF | c.3443-33A>G |
DYSF | c.4886+1249G>T |
DYSF | c.5668-824C>T |
DYSF | c.*107T>A |
FKTN | c.648-1243G>T |
LMNA | c.513+45T>G |
LMNA | c.1609-12T>G |
POMGNT1 | 1284+2_1284+19del18 |
POMT1 | c.-30-2A>G |
SGCG | c.-1+1G>T |