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

Autosomal recessive limb-girdle muscular dystrophy type 2J

Synonyms
Limb-girdle muscular dystrophy, type 2J; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. Caused by homozygous mutation in the titin gene (TTN). [from SNOMEDCT_US]

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: CMD1G, CMH9, CMPD4, CMYO5, CMYP5, EOMFC, HMERF, LGMD2J, LGMDR10, MYLK5, SALMY, TMD, TTN
    Summary: titin

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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