[Table/Fig-5]:
Autosomal recessive LGMDs
| Disease | Clinical features | Locus or gene |
|---|---|---|
| LGMD 2A | Onset 1st or 2nd decade, Tight heel cords, contractures at elbows, wrists, fingers, rigid spine, proximal and distal weakness | Calpain 3 |
| LGMD 2B | Onset 2nd or 3rd decade, proximal muscle weakness at onset, later calf muscles affected. Miyoshi myopathy is variant of LGMD 2B with calf muscles affected at onset [3] | Dysferlin |
| LGMD 2C-F | Onset in childhood to teenage. Clinical condition similar to Duchenne and Becker muscular dystrophies, cardiomyopathy uncommon, cognitive function normal. | sacroglycans |
| LGMD 2G | Onset age 10-15 yrs, proximal and distal muscle weakness [3] | Telethonin |
| LGMD 2H | Onset 1st to 3rd decade, proximal muscle weakness | TRIM 32 gene |
| LGMD 2I | Onset 1st to 3rd decade. Clinical condition similar to Duchenne or Becker dystrophies, cardiomyopathy, cognitive function normal. | Fukutin related protein |
| LGMD 2J | Onset 1st to 3rd decade, proximal lower limb weakness, mild distal weakness, progressive weakness causes loss of ambulation | Titin |
| LMGD 2K | Usually presents in infancy as Walker Wanrburg syndrome but can present in early adult life with proximal weakness and only minor CNS abnormalities | POMT 1 |
| LGMD 2IL | Presents in childhood or adulthood. May manifest with quadriceps atrophy and myalgia. Some present with early involvement of the calves in the second decade of life, resembling Miyoshi myopathy | Anoctamin 5 |
| LGMD 2M | Usually presents in infancy as Fukuyuma congenital muscular dystrophy but can present in early adult life with proximal weakness and only minor CNS abnormalities | Fukutin |
| LGMD 2 N | Usually presents in infancy as Muscle-Eye-Brain disease but can present in early adult life with proximal weakness and only minor CNS abnormalities | POMGn T1 |
| LGMD 2O | Usually presents in infancy as Walker Warburg syndrome but can present in early adult life with proximal weakness and only minor CNS abnormaliies | POMT2 |