NOVEL <i>FHL1</i> MUTATIONS IN FATAL AND BENIGN REDUCING BODY MYOPATHY

Abstract excerpt

Reducing body myopathy (RBM) is a rare disorder characterized pathologically by the presence of intracytoplasmic inclusions strongly stained by menadione-NBT (nitroblue tetrazolium) staining in the absence of the substrate α-glycerophosphate. The causative gene for RBM was recently identified as FHL1 on chromosome Xq27 encoding four and a half LIM domains 1.1 FHL1 is a 32 kDa protein, composed of four LIM domains...

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