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GTR Home > Conditions/Phenotypes > Sarcotubular myopathy

Sarcotubular myopathy

Synonyms
Autosomal recessive limb-girdle muscular dystrophy type 2H; Hutterite type of muscular dystrophy; Limb-Girdle Muscular Dystrophy Type 2H; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; Muscular dystrophy Hutterite type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement. [from ORDO]

Available tests

76 tests are in the database for this condition.

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Clinical tests (76 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBS11, HT2A, LGMD2H, LGMDR8, TATIP, TRIM32
    Summary: tripartite motif containing 32

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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