Article
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
Brain : a journal of neurology - 1 Feb 2009
Schessl Joachim, Taratuto Ana L, Sewry Caroline, Battini Roberta, Chin Steven S, Maiti Baijayanta, Dubrovsky Alberto L, Erro Marcela G, Espada Graciela, Robertella Monica, Saccoliti Maria, Olmos Patricia, Bridges Leslie R, Standring Peter, Hu Ying, Zou Yaqun, Swoboda Kathryn J, Scavina Mena, Goebel Hans-Hilmar, Mitchell Christina A, Flanigan Kevin M, Muntoni Francesco, Bönnemann Carsten G
Abstract excerpt
We recently identified the X-chromosomal four and a half LIM domain gene FHL1 as the causative gene for reducing body myopathy, a disorder characterized by progressive weakness and intracytoplasmic aggregates in muscle that exert reducing activity on menadione nitro-blue-tetrazolium (NBT). The mutations detected in FHL1 affected highly conserved zinc coordinating residues within the second LIM domain and lead to...
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