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GTR Home > Conditions/Phenotypes > Myopathy, reducing body, X-linked, childhood-onset

Myopathy, reducing body, X-linked, childhood-onset

Synonyms
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET

Summary

Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death (RBMX1A; 300717), and a less severe form has onset in late childhood or adulthood (RBMX1B) (summary by Liewluck et al., 2007 and Shalaby et al., 2009). [from OMIM]

Available tests

52 tests are in the database for this condition.

Clinical tests (52 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FCMSU, FHL-1, FHL1A, FHL1B, FLH1A, KYOT, RBMX1A, RBMX1B, SLIM, SLIM-1, SLIM1, SLIMMER, XMPMA, FHL1
    Summary: four and a half LIM domains 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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