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

Autosomal recessive limb-girdle muscular dystrophy type 2N

Synonyms
Limb-Girdle Muscular Dystrophy Type 2N; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

MDDGC2 is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal (Biancheri et al., 2007). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). [from OMIM]

Available tests

60 tests are in the database for this condition.

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Clinical tests (60 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LGMD2N, LGMDR14, MDDGA2, MDDGB2, MDDGC2, POMT2
    Summary: protein O-mannosyltransferase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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