| Erkrankung | Gen(e) |
|---|---|
| Central Core Disease | RYR1 |
| Dystroglykanopathie Typ A | B3GALNT2 B3GNT1 FKRP FKTN GMPPB ISPD LARGE POMGNT1 POMGNT2 POMK POMT1 POMT2 TMEM5 |
| Dystroglykanopathie Typ B | FKRP FKTN GMPPB LARGE POMGNT1 POMT1 POMT2 |
| Dystroglykanopathie Typ C | DAG1 FKRP FKTN GMPPB POMGNT1 POMT1 POMT2 |
| Emery-Dreifuss Muskeldystrophie | EMD FHL1 LMNA SYNE1 SYNE2 TMEM43 |
| Gliedergürtel-Muskeldystrophie | ANO5 CAPN3 CAV3 DAG1 DES DNAJB6 DYSF FKRP FKTN GMPPB LMNA MYOT PLEC1 POMGNT1 POMT1 POMT2 SGCA SGCB SGCD SGCG TCAP TRAPPC11 TRIM32 TTN |
| Miyoshi Muskeldystrophie | ANO5 DYSF |
| Muskeldystrophie Becker / Duchenne | DMD |
| Muskeldystrophie kongenital | B3GNT1 COL6A1 COL6A2 COL6A3 FKRP FKTN G3GALNT2 GMPPB ISPD ITGA7 LAMA2 LARGE LMNA POMGNT1 POMGNT2 POMK POMT1 POMT2 TMEM5 |
| Myasthenie | AGRN CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ DOK7 GFPT1 MUSK RAPSN SCN4A |
| Myoadenylat Desaminase-Mangel | AMPD1 |
| Myotone Dystrophie | DMPK ZNF9 |
| Myotonia congenita | CLCN1 SCN4A |
| Nemaline Myopathie | ACTA1 CFL2 KBTBD13 KLHL40 KLHL41 NEB TNNT1 TPM2 TPM3 |
| Okulopharyngeale Muskeldystrophie | PABPN1 |
| Spinale Muskelatrophie | ASAH1 ATP7A BICD2 BSCL2 DNAJB2 DYNC1H1 FBXO38 GARS HSPB8 IGHMBP2 PLEKHG5 SLC5A7 SMN1 TRPV4 TRPV4 UBA1 VAPB |
| Spinobulbäre Muskelatrophie /Kennedy S. | AR |
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