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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 [56, 57] DNAJB6 Nucleus (DNAJB6a) [58]
Sarcoplasm (DNAJB6b) [58]
Z disc organization [58]
LGMD D2 (LGMD1F) TNPO3 [59, 60] 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
Collagen 6α1
Collagen 6α2
Collagen 6α3
Extracellular matrix Regulation of satellite cell self-renewal and muscle regeneration [49]
  1. Many of the protein functions listed require further confirmation or are disputed