" /> Reducing body myopathy, X-linked 1b, with late childhood or adult onset - CISMeF





Preferred Label : Reducing body myopathy, X-linked 1b, with late childhood or adult onset;

Symbol : RBMX1B;

CISMeF acronym : RBMX1B;

Type : Phenotype, molecular basis known;

Description : 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 and can be classified into 3 main forms: severe early-onset, childhood-onset, and adult-onset (Liewluck et al., 2007).;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the four-and-a-half LIM domains 1 gene ().;

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #300718;

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29/07/2025


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