Table 2 Dominant forms of LGMD, listed according to the new 2018 classification system [13], with old subtype nomenclature in parentheses
From: The ties that bind: functional clusters in limb-girdle muscular dystrophy
Subtype | Gene | Protein | Cellular localization | Protein function |
|---|---|---|---|---|
LGMD D1 (LGMD1D) | DNAJB6 | Nucleus (DNAJB6a) [58] Sarcoplasm (DNAJB6b) [58] | Z disc organization [58] | |
LGMD D2 (LGMD1F) | Transportin 3 | Nuclear membrane | Transports serine/arginine-rich proteins into nucleus [61, 62] | |
LGMD D3 (LGMD1G) | HNRNPDL [63] | Heterogeneous nuclear ribonucleoprotein D-like | Nucleus [63] | RNA processing [63] |
LGMD D4 (LGMD1I) | CAPN3 | Calpain 3 | Myofibril | Cysteine protease |
LGMD D5 | COL6A1 COL6A2 COL6A3 | Collagen 6α1 Collagen 6α2 Collagen 6α3 | Extracellular matrix | Regulation of satellite cell self-renewal and muscle regeneration [49] |