Skip to main content

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) DYSF [16, 17] Dysferlin Sarcolemma Membrane resealing [18, 19]
LGMD R3 (LGMD2D) SGCA [20] α-Sarcoglycan Sarcolemma Mechanosensor
LGMD R4 (LGMD2E) SGCB [21, 22] 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) FKTN [34, 35] Fukutin Golgi apparatus Glycosylation
LGMD R14 (LGMD2N) POMT2 [36] Protein O-mannosyltransferase 2 Endoplasmic reticulum Glycosylation
LGMD R15 (LGMD2O) POMGnT1 [37, 38] 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 Stabilize intermediate filaments [42,43,44]
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 Regulation of autophagy-lysosome pathway [50, 51]
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 PYROXD1 [53, 54] Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 Nucleus Pyridine nucleotide-disulfide reductase [55]
  1. Many of the protein functions listed require further confirmation or are disputed
\