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GTR Home > Conditions/Phenotypes > Polyglucosan body myopathy type 1

Polyglucosan body myopathy type 1

Synonyms
POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY; Polyglucosan body myopathy 1 with or without immunodeficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Polyglucosan body myopathy-1 (PGBM1) is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body Myopathy See also PGBM2 (616199), caused by mutation in the GYG1 gene (603942) on chromosome 3q24. [from OMIM]

Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C20orf18, HOIL-1, HOIL1, PBMEI, PGBM1, RBCK2, RNF54, UBCE7IP3, XAP3, XAP4, ZRANB4, RBCK1
    Summary: RANBP2-type and C3HC4-type zinc finger containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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