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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

A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed. [from ORDO]

Available tests

86 tests are in the database for this condition.

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Clinical tests (86 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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