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

Autosomal dominant limb-girdle muscular dystrophy type 1F

Synonyms
Limb-girdle muscular dystrophy, type 1F; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Autosomal dominant limb-girdle muscular dystrophy-2 (LGMDD2) is a myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. There is variability in presentation and progression. Some patients present in early childhood with mildly delayed walking and difficulty running and jumping, whereas others present as adults with mainly pelvic-girdle weakness. Patients with early onset tend to have a more severe disorder, and may develop contractures, loss of independent ambulation, and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions (summary by Melia et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 (603511). [from OMIM]

Available tests

27 tests are in the database for this condition.

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Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IPO12, LGMD1F, LGMDD2, MTR10A, TRN-SR, TRN-SR2, TRNSR, TNPO3
    Summary: transportin 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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