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Muscular dystrophy, limb-girdle, autosomal recessive 26

Summary

Autosomal recessive limb-girdle muscular dystrophy-26 (LGMDR26) is a muscle disorder characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs. The disorder is slowly progressive, with later involvement of the upper limbs and fatty replacement of muscle tissue apparent on MRI. Some patients may have calf hypertrophy. Serum creatine kinase is significantly elevated, and skeletal muscle biopsy shows typical dystrophic features with normal ultrastructural findings. There is no cardiac or respiratory involvement (summary by Vissing et al., 2019). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: LGMDR26, POP3, bA355M14.1, POPDC3
    Summary: popeye domain containing 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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