Table 1 Recessive forms of LGMD, listed by 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 R1 (LGMD2A) | CAPN3 [14] | Calpain 3 | Myofibril [15] | Cysteine protease |
LGMD R2 (LGMD2B) | Dysferlin | Sarcolemma | ||
LGMD R3 (LGMD2D) | SGCA [20] | α-Sarcoglycan | Sarcolemma | Mechanosensor |
LGMD R4 (LGMD2E) | β-Sarcoglycan | Sarcolemma | Mechanosensor | |
LGMD R5 (LGMD2C) | SGCG [23] | γ-Sarcoglycan | Sarcolemma | Mechanosensor |
LGMD R6 (LGMD2F) | SGCD [24] | δ-Sarcoglycan | Sarcolemma | Mechanosensor |
LGMD R7 (LGMD2G) | TCAP [25] | Telethonin | Sarcomere | Sarcomere assembly and maintenance [26] |
LGMD R8 (LGMD2H) | TRIM32 [27] | TRIM32 | Myofibril [28] | E3-ubiquitin-ligase |
LGMD R9 (LGMD2I) | FKRP [29] | Fukutin-related protein | Golgi apparatus | Glycosylation |
LGMD R10 (LGMD2J) | TTN [30] | Titin | Sarcomere [31] | Various |
LGMD R11 (LGMD2K) | POMT1 [32] | Protein O-mannosyltransferase 1 | Endoplasmic reticulum | Glycosylation |
LGMD R12 (LGMD2L) | ANO5 [33] | Anoctamin5 | Sarcolemma | Membrane resealing |
LGMD R13 (LGMD2M) | Fukutin | Golgi apparatus | Glycosylation | |
LGMD R14 (LGMD2N) | POMT2 [36] | Protein O-mannosyltransferase 2 | Endoplasmic reticulum | Glycosylation |
LGMD R15 (LGMD2O) | Protein O-linked mannose N-acetylglucosaminyltransferase 1 | Golgi apparatus | Glycosylation | |
LGMD R16 (LGMD2P) | DAG1 [39] | Dystroglycan 1 | Extracellular matrix | Stabilize sarcomeric cytoskeleton [40] |
LGMD R17 (LGMD2Q) | PLEC [41] | Plectin | Cytosol | |
LGMD R18 (LGMD2S) | TRAPPC11 [45] | Trafficking protein particle complex 11 | Golgi apparatus | Intracellular vesicle trafficking |
LGMD R19 (LGMD2T) | GMPPB [46] | GDP-mannose pyrophosphorylase B | Cytosol | Glycosylation |
LGMD R20 (LGMD2U) | ISPD/CRPPA [47] | CDL-L-ribitol pyrophosphorylase A | Cytosol | Glycosylation |
LGMD R21 (LGMD2Z) | POGLUT1 [48] | Protein O-glucosyltransferase 1 | Endoplasmic reticulum | Notch signaling |
LGMD R22 (none) | COL6A1 COL6A2 COL6A3 | Collagen 6α1 Collagen 6α2 Collagen 6α3 | Extracellular matrix | Regulation of satellite cell self-renewal and muscle regeneration [49] |
LGMD R23 (none) | LAMA2 | Laminin α2 | Extracellular matrix | |
LGMD R24 (none) | POMGNT2 | Protein O-linked mannose N-acetylglucosaminyltransferase 2 | Endoplasmic reticulum | Glycosylation |
LGMD R25 (LGMD2X) | BVES [52] | Blood vessel epicardial substance | Sarcolemma | Membrane trafficking [52] |
LGMD R, number pending | Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 | Nucleus | Pyridine nucleotide-disulfide reductase [55] |