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

Autosomal recessive limb-girdle muscular dystrophy type 2E

Synonyms
Beta-sarcoglycan limb-girdle muscular dystrophy; Limb-girdle muscular dystrophy, type 2E; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4; Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Limb-girdle muscular dystrophies are characterized clinically by predominantly proximal muscle weakness of variable severity and dystrophic changes on muscle biopsy. LGMDR4 is in general a severe form of the disorder, with some patients developing symptoms before 8 years of age and losing the ability to ambulate in their second decade. Some patients have a milder course, with weakness evident in the teenage years and loss of walking ability in their fourth decade (summary by Lim et al., 1995 and Bonnemann et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). [from OMIM]

Available tests

64 tests are in the database for this condition.

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Clinical tests (64 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: A3b, LGMD2E, LGMDR4, SGC, SGCB
    Summary: sarcoglycan beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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