Skip to main content
. 2015 Jan 1;9(1):OD08–OD09. doi: 10.7860/JCDR/2015/10107.5486

[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