Reducing body myopathy, X-linked 1b, with late childhood or adult onset - CISMeF
Reducing body myopathy, X-linked 1b, with late childhood or adult onsetOMIM Phenotype
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 ().;