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myopathy, reducing body, X-linked, early-onset, severe

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. Death in childhood is frequent in the severe form of the disease, due to respiratory failure.
Mondo Term and Equivalent IDs
MONDO:0010414:  myopathy, reducing body, X-linked, early-onset, severe
MESH:C567469: 
UMLS:C2678027: