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

Autosomal recessive limb-girdle muscular dystrophy type 2M

Synonyms
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

MDDGC4 is an autosomal recessive muscular dystrophy with onset in infancy or early childhood. Cognition and brain structure are usually normal (Godfrey et al., 2006). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009). [from OMIM]

Available tests

114 tests are in the database for this condition.

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Clinical tests (114 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4, FKTN
    Summary: fukutin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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