Gene |
Disorder |
MIM |
Inheritance |
ANO5 |
Muscular dystrophy, limb-girdle, type 2L (LGMD2L) Miyoshi muscular dystrophy 3 (MMD3) |
611307 613319 |
AR AR |
CAPN3 |
Muscular dystrophy, limb-girdle, type 2A (LGMD2A) |
253600 |
AR |
CAV3 |
Muscular dystrophy, limb-girdle, type IC (LGMD1C) Myopathy, distal, Tateyama type (MPDT) Rippling muscle disease (RMD) |
607801 614321 606072 |
AD/AR AD AD |
DAG1 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MDDGA9) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 (MDDGC9) |
616538
613818
|
AR
AR
|
DES |
Myopathy, myofibrillar, 1 (MFM1) Cardiomyopathy, dilated, 1I (CMD1I) Muscular dystrophy, limb-girdle, type 2R (LGMD2R) Scapuloperoneal syndrome, neurogenic, Kaeser type (SCPNK) |
601419 604765 615325 181400 |
AD/AR AD AR AD |
DNAJB6 |
Muscular dystrophy, limb-girdle, type 1E (LGMD1E) |
603511 |
AD |
DYSF |
Myopathy, distal, with anterior tibial onset (DMAT) Muscular dystrophy, limb-girdle, type 2B (LGMD2B) Miyoshi muscular dystrophy 1 (MMD1) |
606768 253601 254130 |
AR AR AR |
EMD |
Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) |
310300 |
XLR |
FHL1 |
Myopathy, X-linked, with postural muscle atrophy (XMPMA) Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (RBMX1A) Reducing body myopathy, X-linked 1b, with late childhood or adult onset (RBMX1B) Scapuloperoneal myopathy, X-linked dominant (SPM) |
300696 300717 300718 300695 |
XLR XLD XL XLD |
FKRP |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MDDGA5) Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 (MDDGB5) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MDDGC5) |
613153
606612
607155
|
AR
AR
AR
|
FKTN |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4) Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 (MDDGB4) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (MDDGC4) |
253800
613152
611588
|
AR
AR
AR
|
FLNC |
Myopathy, distal, 4 (MPD4) Myopathy, myofibrillar, 5 (MFM5) |
614065 609524 |
AD AD |
GAA |
Glycogen storage disease II (GSD2) |
232300 |
AR |
GMPPB |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MDDGA14) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 (MDDGB14) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MDDGC14) |
615350
615351
615352
|
AR
AR
AR
|
HNRNPDL |
Muscular dystrophy, limb-girdle, type 1G (LGMD1G) |
609115 |
AD |
ISPD |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 (MDDGA7) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 (MDDGC7) |
614643
616052
|
AR
AR
|
LARGE1 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 (MDDGA6) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type B, 6 (MDDGB6) |
613154
608840
|
AR
AR
|
LIMS2 |
Muscular dystrophy, limb-girdle, type 2W (LGMD2W) |
616827 |
AR |
LMNA |
Charcot-Marie-Tooth disease, type 2B1 (CMT2B1) Emery-Dreifuss muscular dystrophy 2, AD (EDMD2) Emery-Dreifuss muscular dystrophy 3, AR (EDMD3) Muscular dystrophy, congenital, LMNA-related Muscular dystrophy, limb-girdle, type 1B (LGMD1B) |
605588 181350 616516 613205 159001 |
AR AD AR AD AD |
MYOT |
Muscular dystrophy, limb-girdle, type 1A (LGMD1A) Myopathy, myofibrillar, 3 (MFM3) Myopathy, spheroid body |
159000 609200 182920 |
AD AD AD |
PLEC |
Muscular dystrophy, limb-girdle, type 2Q (LGMD2Q) |
613723 |
AR |
POMGNT1 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 (MDDGA3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 (MDDGB3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (MDDGC3) |
253280
613151
613157
|
AR
AR
AR
|
POMK |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 (MDDGC12) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MDDGA12) |
616094 615249 |
AR AR |
POMT1 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MDDGA1) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (MDDGB1) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (MDDGC1) |
236670
613155
609308
|
AR
AR
AR
|
POMT2 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2(MDDGA2) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 (MDDGB2) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 (MDDGC2) |
613150
613156
613158
|
AR
AR
AR
|
SGCA |
Muscular dystrophy, limb-girdle, type 2D (LGMD2D) |
608099 |
AR |
SGCB |
Muscular dystrophy, limb-girdle, type 2E (LGMD2E) |
604286 |
AR |
SGCD |
Muscular dystrophy, limb-girdle, type 2F (LGMD2F) |
601287 |
AR |
SGCG |
Muscular dystrophy, limb-girdle, type 2C (LGMD2C) |
253700 |
AR |
TCAP |
Muscular dystrophy, limb-girdle, type 2G (LGMD2G) |
601954 |
AR |
TNPO3 |
Muscular dystrophy, limb-girdle, type 1F (LGMD1F) |
608423 |
AD |
TOR1AIP1 |
Muscular dystrophy, limb-girdle, type 2Y (LGMD2Y) |
617072 |
AR |
TRAPPC11 |
Muscular dystrophy, limb-girdle, type 2S (LGMD2S) |
615356 |
AR |
TRIM32 |
Muscular dystrophy, limb-girdle, type 2H (LGMD2H) |
254110 |
AR |
TTN |
Cardiomyopathy, dilated, 1G (CMD1G) Cardiomyopathy, familial hypertrophic, 9 (CMH9) Muscular dystrophy, limb-girdle, type 2J (LGMD2J) Myopathy, early-onset, with fatal cardiomyopathy (EOMFC) Myopathy, proximal, with early respiratory muscle involvement (HMERF) Tibial muscular dystrophy, tardive (TMD) |
604145 613765 608807 611705 603689 600334 |
AD AD AR AR AR AD |