Table 2.
Autosomal recessive limb girdle muscular dystrophy.
| Gene | Clinical phenotype | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Disease | Locus | Name | Exons | Protein product | LGMD phenotype | Typical onset | Progression | Cardiomiopathy | sCK | Allelic disorders (OMIM, #) |
| LGMD2A | 15q15 | CAPN3 | 24 | Calpain 3 | ordinary | Adolescence | Moderate/ rapid | Rarely observed | 3–20X | |
| LGMD2B | 2p13.2 | DYSF | 56 | Dysferlin | ordinary | Young adulthood | Slow | Possible | 5-40X | Miyoshi muscular dystrophy 1 (254130) |
| Myopathy, distal, with anterior tibial onset (606768) | ||||||||||
| LGMD2C | 13q12 | SGCG | 8 | γ-Sarcoglycan | ordinary | Early childhood | Rapid | Often severe | 10–70X | |
| LGMD2D | 17q21.33 | SGCA | 10 | α-Sarcoglycan | ordinary | Early childhood | Rapid | Often severe | 10–70X | |
| LGMD2E | 4q12 | SGCB | 6 | β-Sarcoglycan | ordinary | Early childhood | Rapid | Often severe | 10–70X | |
| LGMD2F | 5q33 | SGCD | 9 | δ-Sarcoglycan | ordinary | Early childhood | Rapid | Rarely observed | 10–70X | Cardiomyopathy, dilated, 1L (606685) |
| LGMD2G | 17q12 | TCAP | 2 | Telethonin | ordinary | Adolescence | Slow | Possible | 10X | Cardiomyopathy, dilated, 1N (607487) |
| LGMD2H | 9q33.1 | TRIM32 | 2 | Tripartite motif containing 32 | ordinary | Adulthood | Slow | Not observed | 10X | Bardet-Biedl syndrome 11 (209900) |
| LGMD2I | 19q13.3 | FKRP | 4 | Fukutin related protein | ordinary | Late childhood | Moderate | Possible | 10-20X | |
| LGMD2J | 2q24.3 | TTN | 312 or more | Titin | occasional | Young adulthood | Severe | Not observed | 10-40X | Cardiomyopathy, dilated, 1G (604145) |
| Cardiomyopathy, familial hypertrophic, 9 (613765) | ||||||||||
| Myopathy, early-onset, with fatal cardiomyopathy (611705) | ||||||||||
| Myopathy, proximal, with early respiratory muscle involvement (603689) | ||||||||||
| Tibial muscular dystrophy, tardive (600334) | ||||||||||
| LGMD2K | 9q34.1 | POMT1 | 20 | Protein-O-mannosyl transferase 1 | occasional | Childhood | Slow | Not observed | 10-40X | Muscular dystrophydystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (236670) |
| Muscular dystrophydystroglycanopathy (congenital with mental retardation), type B, 1 (613155) | ||||||||||
| Muscular dystrophydystroglycanopathy (limbgirdle), type C, 1 (609308) | ||||||||||
| LGMD2L | 11p13-p12 | ANO5 | 22 | Anoctamin 5 | ordinary | Variable (young to late adulthood) | Slow | Not observed | 1-15X | Gnathodiaphyseal dysplasia (166260) |
| Miyoshi muscular dystrophy 3 (613319) | ||||||||||
| LGMD2M | 9q31 | FKTN | 11 | Fukutin | occasional | Early childhood | Moderate | Possible | 10-70X | Cardiomyopathy, dilated, 1X (611615) |
| Muscular dystrophydystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (253800) | ||||||||||
| Muscular dystrophydystroglycanopathy (congenital without mental retardation), type B, 4 (613152) | ||||||||||
| LGMD2N | 14q24 | POMT2 | 21 | Protein-O-mannosyl transferase 2 | occasional | Early childhood | Slow | Rarely observed | 5-15X | Muscular dystrophydystroglycanopathy (congenital with brain and eye anomalies), type A, 2 (613150) |
| Muscular dystrophydystroglycanopathy (congenital with mental retardation), type B, 2 (613156) | ||||||||||
| LGMD2O | 1p34.1 | POMGnT1 | 22 | Protein O-linked mannose beta1,2-Nacetylglucosaminyl transferase | occasional | Late childhood | Moderate | Not observed | 2-10X | Muscular dystrophydystroglycanopathy (congenital with brain and eye anomalies), type A, 3 (253280) |
| Muscular dystrophydystroglycanopathy (congenital with mental retardation), type B, 3 (613151) | ||||||||||
| Muscular dystrophydystroglycanopathy (limbgirdle), type C, 3 (613157) | ||||||||||
| LGMD2P | 3p21 | DAG1 | 3 | Dystroglycan | singular | Early childhood | Moderate | Not observed | 20X | |
| LGMD2Q | 8q24 | PLEC1 | 32 | Plectin | singular | Early childhood | Slow | Not observed | 10-50X | Epidermolysis bullosa simplex with pyloric atresia (612138) |
| Epidermolysis bullosa simplex, Ogna type (131950) | ||||||||||
| Muscular dystrophy with epidermolysis bullosa simplex (226670) | ||||||||||
| LGMD2R | 2q35 | DES | 9 | Desmin (structural; intermediate filament) | occasional | Young adulthood | A-V conduction block | 1X | Muscular dystrophy, limbgirdle, type 2R(615325) | |
| Cardiomyopathy, dilated, 1I(604765) | ||||||||||
| Myopathy, myofibrillar, 1(601419) | ||||||||||
| Scapuloperoneal syndrome, neurogenic, Kaeser type(181400) | ||||||||||
| LGMD2S | 4q35 | TRAPPC11 | 30 | Transport protein particle complex 11 | occasional | Young adulthood | Slow | Not observed | 9-16X | |
| LGMD2T | 3p21 | GMPPB | 8 | GDP-mannose pyrophosphorylase B | occasional | Early childhood- Young adulthood | Possible | Muscular dystrophydystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (615350) | ||
| Muscular dystrophydystroglycanopathy (congenital with mental retardation), type B, 14 (615351) | ||||||||||
| LGMD2U | 7p21 | ISPD | 10 | Isoprenoid synthase domain containing | occasional | Early / Late | Rapid/ Moderate | Possible | 6-50X | Muscular dystrophydystroglycanopathy (congenital with brain and eye anomalies), type A, 7 (614643) |
| LGMD2V | 17q25.3 | GAA | 20 | Alpha-1,4-glucosidase | occasional | Variable | Variable (Rapid to slow) | Possible | 1-20X | Glycogen storage disease II (232300) |
| LGMD2W | 2q14 | LIMS2 | 7 | Lim and senescent cell antigen-like domains 2 | ? | Childhood | - | Possible | - | |