| New Name | Old Name | Gene Symbol | Protein | Chromosomal Locus | Key Clinical Features | Age of Onset |
|---|---|---|---|---|---|---|
| LGMDR1 | LGMD2A | CAPN3 | Calpain-3 | 15q15.1 | Progressive proximal pelvic/shoulder weakness; early contractures and scoliosis may occur; posterior thigh involvement common; often wheelchair dependence in 2nd-4th decade (pqac-00000003, pqac-00000010, pqac-00000031, pqac-00000033) | Variable, ~2-53 years; often childhood/adolescence (pqac-00000031, pqac-00000033) |
| LGMDR2 | LGMD2B | DYSF | Dysferlin | 2p13.2 | Proximal weakness with gluteus maximus/quadriceps involvement; very high CK; dysferlin gait; fatty replacement of posterior thigh/leg muscles; distal spread later (pqac-00000003, pqac-00000024, pqac-00000030, pqac-00000034) | Usually teens to 30s; ~13-40 years (pqac-00000030, pqac-00000034) |
| LGMDR3 | LGMD2D | SGCA | α-Sarcoglycan | 17q21.33 | Pelvic girdle weakness, exercise intolerance, muscle atrophy; sarcoglycanopathy phenotype with possible calf hypertrophy and cardiomyopathy in severe cases (pqac-00000003, pqac-00000010, pqac-00000029, pqac-00000033) | Usually childhood, often <10 years (pqac-00000029, pqac-00000033) |
| LGMDR4 | LGMD2E | SGCB | β-Sarcoglycan | 4q12 | Weakness with fatty replacement in dorsal, spinal, and limb muscles; often severe sarcoglycanopathy with possible cardiac/respiratory involvement (pqac-00000003, pqac-00000035, pqac-00000029) | Usually childhood (pqac-00000029, pqac-00000031) |
| LGMDR5 | LGMD2C | SGCG | γ-Sarcoglycan | 13q12 | Variable severity, including severe childhood form; loss of ambulation before age 13 in severe cases; calf hypertrophy and high CK common (pqac-00000003, pqac-00000035, pqac-00000029) | Usually childhood (pqac-00000029, pqac-00000031) |
| LGMDR6 | LGMD2F | SGCD | δ-Sarcoglycan | 5q33.2-q33.3 | Variable sarcoglycanopathy phenotype; proximal weakness with risk of cardiomyopathy/respiratory complications (pqac-00000003, pqac-00000010, pqac-00000029) | Usually childhood to adolescence (pqac-00000029, pqac-00000031) |
| LGMDR7 | LGMD2G | TCAP | Telethonin | 17q12 | Proximal weakness; relatively enriched in some populations (e.g., Southeast China) with founder variant c.26_33dupAGGTGCG/TCAP duplication reported frequently (pqac-00000002, pqac-00000015) | Variable; often childhood/adolescence (pqac-00000015) |
| LGMDR9 | LGMD2I | FKRP | Fukutin-related protein | 19q13.32 | Dystroglycanopathy; progressive proximal weakness, elevated CK, muscle atrophy on MRI; respiratory decline (~2%/year in adults) and cardiomyopathy may occur; genotype influences severity (pqac-00000005, pqac-00000029) | Variable; often childhood to early adulthood (pqac-00000016, pqac-00000029) |
| LGMDR11 | LGMD2K | POMT1 | Protein O-mannosyl-transferase 1 | 9q34.13 | Dystroglycanopathy; childhood-onset proximal weakness, may associate with broader multisystem involvement depending on severity (pqac-00000002, pqac-00000005) | Usually childhood (pqac-00000005) |
| LGMDR12 | LGMD2L | ANO5 | Anoctamin-5 | 11p14.3 | Adult-onset proximal weakness; often asymmetric or mixed proximal/distal pattern in some patients; elevated CK; slower progression than classic childhood sarcoglycanopathies (pqac-00000000, pqac-00000029) | Usually adulthood (pqac-00000029) |
| LGMDR14 | LGMD2N | POMT2 | Protein O-mannosyl-transferase 2 | 14q24.3 | Dystroglycanopathy; childhood-onset girdle weakness with variable severity, sometimes with extra-muscular involvement in more severe allelic disease (pqac-00000002, pqac-00000005) | Usually childhood (pqac-00000005) |
| LGMDR15 | LGMD2O | POMGNT1 | Protein O-linked mannose N-acetylglucosaminyltransferase 1 | 1p34.1 | Dystroglycanopathy; limb-girdle weakness with variable course and possible overlap with congenital muscular dystrophy spectrum (pqac-00000002, pqac-00000005) | Usually childhood (pqac-00000005) |
| LGMDR18 | LGMD2S | TRAPPC11 | Trafficking protein particle complex subunit 11 | 4q35.1 | Proximal-distal weakness; reported association with fatty liver disease and diabetes in rare cases (pqac-00000002, pqac-00000031) | Variable; rare subtype, can present later than previously recognized (pqac-00000031) |
| LGMDR21 | LGMD2Z | POGLUT1 | Protein O-glucosyltransferase 1 | 3q13.33 | Rare recessive LGMD with proximal weakness; linked to defective glycosylation/protein processing pathways (pqac-00000001, pqac-00000012) | Variable, often childhood/adolescence (pqac-00000001) |


*Table: This table summarizes the principal autosomal recessive limb-girdle muscular dystrophy subtypes, aligning old and new nomenclature with causal genes, proteins, loci, and hallmark clinical features. It is useful for rapid comparison across common sarcolemmal, sarcomeric, and dystroglycanopathy-associated forms.*