Article
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1.
Neuropediatrics - 1 Feb 2010
Schessl J, Columbus A, Hu Y, Zou Y, Voit T, Goebel H H, Bönnemann C G
Abstract excerpt
OBJECTIVE: Reducing body myopathy (RBM) is a rare progressive disorder of muscle characterized by intracytoplasmic inclusions, which stain strongly with menadione-NBT (nitroblue tetrazolium). We recently identified the four and a half LIM domain gene FHL1 located on chromosome Xq26 as the causative gene for RBM. So far eight familial cases and 21 sporadic patients with RBM have been reported in the literature....
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