Table 1.
Classification of LGMD types and affected genes, associated protein and function.
| Type | Gene | Protein | Function | |
|---|---|---|---|---|
| Type 1: autosomal dominant |
LGMD1A | MYOT | Myotilin | Cross-links actin filaments + sarcomere assembly |
| LGMD1B | LMNA | Lamin A/C | Nuclear envelope in fibroblasts | |
| LGMD1C | CAV3 | Caveolin 3 | Skeletal muscle mitochondria form and function | |
| LGMD1D (LGMDD1) |
DNAJB6 | DNAJ homologue, family B, member 6 | Sarcomeric protein maintenance and aggregation | |
| LGMD1E | DES | Desmin | Maintain muscular structure and function | |
| LGMD1F (LGMDD2) |
TNPO3 | Transportin 3 | Sarcomeric assembly | |
| LGMD1G (LGMDD3) |
HNRNPDL | Heterogenous nuclear ribonucleoprotein D-like | Regulate transcription and alternative splicing | |
| LGMD1H | ? | ? | ? | |
| LGMD1I (LGMDD4) |
CAPN3 | Calpain 3 | Sarcomere regulation | |
| Bethlem myopathy dominant (LGMDD5) | COL6A1, COL6A2, COL6A3 | Collagen 6 | Extracellular matrix structure and muscle regeneration | |
| Type 2: autosomal recessive |
LGMD2A (LGMDR1) |
CAPN3 | Calpain 3 | Sarcomere regulation |
| LGMD2B (LGMDR2) |
DYSF | Dysferlin | Sarcomere stability and muscular repair | |
| LGMD2C (LGMDR5) |
SGCG | γ-Sarcoglycan | Cytoskeleton extracellular matrix link | |
| LGMD2D (LGMDR3) |
SGCA | α-Sarcoglycan | Cytoskeleton extracellular matrix link | |
| LGMD2E (LGMDR4) |
SGCB | β-Sarcoglycan | Cytoskeleton extracellular matrix link | |
| LGMD2F (LGMDR6) |
SGCD | δ-Sarcoglycan | Cytoskeleton extracellular matrix link | |
| LGMD2G (LGMDR7) |
TCAP | Telethonin | Myofibrillogenesis | |
| LGMD2H (LGMDR8) |
TRIM32 | Tripartite motif-containing protein 32 | Ca2+ movement of in skeletal muscles | |
| LGMD2I (LGMDR9) |
FKRP | Fukutin-related protein | Glycosylation of α-dystroglycan | |
| LGMD2J (LGMDR10) |
TTN | Titin | Muscle tension | |
| LGMD2K (LGMDR11) |
POMT1 | Protein O-mannosyltransferase 1 | O-mannosylation in α-dystroglycan | |
| LGMD2L (LGMDR12) |
ANO5 | Anoctamin 5 | Calcium-activated chloride channels | |
| LGMD2M (LGMDR13) |
FKTN | Fukutin | Glycosylation of α-dystroglycan | |
| LGMD2N (LGMDR14) |
POMT2 | Protein O-mannosyltransferase 2 | O-mannosylation in α-dystroglycan | |
| LGMD2O (LGMDR15) |
POMGnT1 | Protein O-mannose beta-1,2-Nacetylglucosaminyltranserase | Catalyzes reactions in α-dystroglycan | |
| LGMD2P (LGMDR16) |
DAG1 | Dystroglycan | Part of the dystroglycan complex | |
| LGMD2Q (LGMDR17) |
PLEC1 | Plectin | Cell survival, cell growth, actin organization and T-cell activation | |
| LGMD2R | DES | Desmin | Connect sarcomeres to form myofibrils | |
| LGMD2S (LGMDR18) |
TRAPPC11 | Transport protein particle complex 11 | Transport between endoplasmic reticulum and Golgi apparatus | |
| LGMD2T (LGMDR19) |
GMPPB | GDP-mannose pyrophosphorylase B | Production of GDP-mannose for the O-mannosylation of α-dystroglycan | |
| LGMD2U (LGMDR20) |
ISPD | Isoprenoid synthase | Glycosylation of α-dystroglycan | |
| LGMD2V | GAA | α-1,4-Glucosidase | Lysozyme function | |
| LGMD2W | LIMS2 | Lim and senescent cell antigen-like domains 2 | Cell spreading and migration | |
| LGMD2X (LGMDR25) |
BVES | Popeye domain containing protein 1 (POPDC1) | Structure and function of cardiac and skeletal muscle cells | |
| LGMD2Y | TOR1A1P1 | Torsin 1A-interacting protein 1 | Link between the nuclear membrane and lamina during cell division | |
| LGMD2Z (LGMDR21) |
POGLUT1 | Protein O-glucosyltransferase1 | Protein transport and process. | |
| Bethlem myopathy recessive (LGMDR22) | COL6A1, COL6A2, COL6A3 | Collagen 6 | Extracellular matrix structure and muscle regeneration | |
| Laminin α2-related muscular dystrophy (LGMDR23) | LAMA2 | Laminin α2 | Myotubes stability and apoptosis | |
| POMGNT2-related muscular dystrophy (LGMDR24) | POMGnT2 | Protein O-linked Mannose β-1,4-N-Acetylglucosaminyl-transferase 2 | Catalyzes reactions in α-dystroglycan |