GTR Home > Conditions/Phenotypes > Limb-girdle muscular dystrophy, type 2Q

Summary

Autosomal recessive limb-girdle muscular dystrophy-17 is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence (summary by Gundesli et al., 2010). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). [from OMIM]

Available tests

47 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: EBS1, EBSMD, EBSND, EBSO, EBSOG, EBSPA, HD1, LGMD2Q, LGMDR17, PCN, PLEC1, PLEC1b, PLTN, PLEC
    Summary: plectin

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