Muscular disease type | Gene | Mutation type | Sequence variation | Position | Zygosity | Cases, n | Families, n |
---|---|---|---|---|---|---|---|
Muscular dystrophy | |||||||
MD1 | DMPK | Expanded CTG (> 40) | 3′-UTR | 225 | 116 | ||
FSHD1 | DUX | Deletion D4Z4 | 25 | 21 | |||
FSHD2 | SMCHD1 | SNV | c.5602C > T | Exon 45 | Het | 6 | 1 |
SMCHD1 | SNV | c.2329A > T | Exon 18 | Het | 1 | 1 | |
LGMD2A | CAPN3 | Frameshift variant | c.2362_2363delinsAG/TCATCT | Exon 22 | Hom | 16 | 15 |
CAPN3 CAPN3 | SNV Frameshift variant | c.664G > A c.2362_2363delinsAG/TCATCT | Exon 5 Exon 22 | Het Het | 1 | 1 | |
LGMD2B | DYSF | SNV | c.895G > A | Exon 9 | Hom | 1 | 1 |
LGMD2C | SGCG | SNV | c.848G > A | Exon 8 | Hom | 2 | 2 |
LGMD2D | SGCA | SNV | c.293G > A | Exon 3 | Hom | 1 | 1 |
LGMD2I | FKRP | SNV | c.826C > A | Exon 4 | Hom | 1 | 1 |
LGMD2L | ANO5 | Frameshift variant | c.1627dupA | Exon 15 | Hom | 1 | 1 |
ANO5 | Frameshift variant | c.191dupA | Exon 5 | Hom | 2 | 1 | |
ANO5 ANO5 | Frameshift variant SNV | c.191dupA c.1664G > T | Exon 5 Exon 16 | Het Het | 1 | 1 | |
ANO5 ANO5 | SNV Splice variant | c.172C > T c.1119 + 1G > T | Exon 4 Intron 12 | Het Het | 1 | 1 | |
OPMD | PABPN1 | Expanded GCN (> 10) | Exon 1 | 5 | 4 | ||
Emerin EDMD | EMD | Complete deletion | 1 | 1 | |||
Lamin EDMD | LMNA | SNV | c.1130G > A | Exon 6 | Het | 2 | 1 |
LMNA | SNV | c.215G > T | Exon 1 | Het | 1 | 1 | |
LMNA | SNV | c.65C > A | Exon 1 | Het | 1 | 1 | |
DMC-Dystroglicanopathy | GMPPB | SNV | c.553C > T | Exon 5 | Hom | 1 | 1 |
Metabolic myopathy | |||||||
GSD-II | GAA GAA | Intronic variant SNV | c.-32-13 T > G c.1933G > T | Intron 1 Exon 14 | Het Het | 1 | 1 |
GAA GAA | Intronic variant SNV | c.-32-13 T > G c.1724A > G | Intron 1 Exon 12 | Het Het | 1 | 1 | |
GSD-V | PYGM | Stop gained | c.148C > T | Exon 1 | Hom | 1 | 1 |
PYGM PYGM | Stop gained SNV | c.148C > T c.1468C > T | Exon 1 Exon 12 | Het Het | 1 | 1 | |
PYGMa | 1 | 1 | |||||
PYGMa | 1 | 1 | |||||
Lipid storage disease | CPT2 | SNV SNV | c.359A > G c.1547 T > C | Exon 4 Exon 4 | Het Het | 1 | 1 |
Congenital myopathy | |||||||
Myosin storage | MYH-7 | SNV | c.5533C > T | Exon 37 | Het | 1 | 1 |
MYH-7 | SNV | c.1314G > A | Exon 14 | Het | 1 | 1 | |
Nemaline | ACTA1 | SNV | c.808G > C | Exon 5 | Het | 1 | 1 |
Myofibrillar myopathy | |||||||
Zaspopathy | LDB3 | SNV | c.494C > T | Exon 5 | Het | 4 | 1 |