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

Autosomal recessive limb-girdle muscular dystrophy type 2G

Synonyms
Limb-girdle muscular dystrophy, type 2G; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; Telethoninopathy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive limb-girdle muscular dystrophy-7 (LGMDR7), also known as LGMDR7, is a skeletal muscle disorder with age of onset in the first or second decade of life. Weakness of proximal and some distal muscles progresses to inability to walk by the third or fourth decade, although some individuals retain the ability to walk without support later. Heart involvement may be present. Creatine kinase levels are increased as much as 30-fold (summary by Moreira et al., 2000). For a general description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). [from OMIM]

Available tests

76 tests are in the database for this condition.

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Clinical tests (76 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1N, CMH25, LGMD2G, LGMDR7, T-cap, TELE, telethonin, TCAP
    Summary: titin-cap

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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