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GTR Home > Conditions/Phenotypes > Muscular dystrophy-dystroglycanopathy type B5

Muscular dystrophy-dystroglycanopathy type B5

Synonyms
FKRP-Related Muscle Diseases; MUSCULAR DYSTROPHY, CONGENITAL, 1C; MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5

Summary

MDDGB5 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities (Brockington et al., 2001). 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., 2006). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). [from OMIM]

Available tests

101 tests are in the database for this condition.

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Clinical tests (101 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FKTR, LGMD2I, LGMDR9, MDC1C, MDDGA5, MDDGB5, MDDGC5, FKRP
    Summary: fukutin related protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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