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GTR Home > Conditions/Phenotypes > Autosomal dominant limb-girdle muscular dystrophy type 1H

Autosomal dominant limb-girdle muscular dystrophy type 1H

Synonyms
Limb-girdle muscular dystrophy, type 1H
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Limb-girdle muscular dystrophy type 1H (LGMD1H) is an autosomal dominant disorder characterized by adult onset of progressive proximal muscle weakness affecting both the upper and lower limbs (Bisceglia et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 (603511). [from OMIM]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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