Table I.
LGMD classification.
| Form | Locus | Gene | Proteinopathies | Key references |
|---|---|---|---|---|
| Autosomal dominant | ||||
| LGMD1A | 5q31 | MYOTM | Myotilinopathies | (9) |
| LGMD1B | 1q11-q21 | LMNA | Lamin A/C opathies | (10) |
| LGMD1C | 3p25 | CAV3 | Caveolinopathies | (11) |
| LGMD1D | 2q35 | DES | Desminopathies | (12) |
| LGMD1E | 7q36 | DNAJB6 | HSP40/DNAJ | (13,14) |
| LGMD1F | 7q32.1-q32.2 | - | - | (15) |
| LGMD1G | 4p21 | - | - | (16) |
| LGMD1H | 3p23-p25 | - | - | (17) |
| Autosomal recessive | ||||
| LGMD2A | 15q15.1 | CAPN3 | Calpainopathy | (18) |
| LGMD2B | 2p13 | DYSF | Dysferlinopathies | (19) |
| LGMD2Ca | 13q12 | SGCG | γ-sarcoglycanopathy | (20) |
| LGMD2Da | 17q12-q21.33 | SGCA | α-sarcoglycanopathy | (21) |
| LGMD2Ea | 4q12 | SGCB | β-sarcoglycanopathy | (22) |
| LGMD2Fa | 5q33 | SGCD | δ-sarcoglycanopathy | (23) |
| LGMD2G | 17q12 | TCAP | Telethoninopathy | (24) |
| LGMD2H | 9q31-q34 | TRIM32 | E3-ubiquitin ligase | (25) |
| LGMD2Ib | 19q13 | FKRP | Fukutin-related protein | (26) |
| LGMD2J | 2q31 | TTN | Titinopathies | (27) |
| LGMD2Kb | 9q34.1 | POMT1 | POMT1 | (28) |
| LGMD2L | 11p14.3 | ANO5 | Anoctaminopathies | (29) |
| LGMD2Mb | 9p3 | FKTN | Fukutinopathies | (30) |
| LGMD2Nb | 14q10-q24 | POMT2 | POMT2 | (31) |
| LGMD2Ob | 1p34-33 | POMGnT1 | POMGnT1 | (32) |
| LGMD2Pb | 3p21 | DAG1 | Dystroglycan | (33,34) |
| LGMD2Q | 8q24.3 | PLEC | Plectinopathies | (35) |
Nomenclature of LGMD1D/1E was according to OMIM.
a
Sarcoglycanopathies;
b
dystroglycanopathies.
LGMD, limb-girdle muscular dystrophies.