U.S. flag

An official website of the United States government

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 form of limb-girdle muscular dystrophy with characteristics of muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy and lack of respiratory and cardiac involvement. [from SNOMEDCT_US]

Available tests

76 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

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

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.