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GTR Home > Conditions/Phenotypes > Autosomal recessive limb-girdle muscular dystrophy type 2C

Summary

A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. [from ORDO]

Available tests

76 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: 35DAG, A4, DAGA4, DMDA, DMDA1, LGMD2C, LGMDR5, MAM, SCARMD2, SCG3, gamma-SG, SGCG
    Summary: sarcoglycan gamma

Clinical features

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