Novel FHL1 mutation in a family with reducing body myopathy
Schreckenbach, Tobias Henn, Wolfram Kress, Wolfram Roos, Andreas Maschke, Matthias Feiden, Wolfgang Dillmann, Ulrich Schulz, Jörg B Weis, Joachim Claeys, Kristl # ×
John Wiley & Sons
Muscle & Nerve vol:47 issue:1
Reducing body myopathy is a rare X-linked myopathy. It is characterized by intracytoplasmic inclusions that stain with menadione-nitroblue tetrazolium. It is caused by mutations in the FHL1 gene, which encodes the four-and-a-half LIM domain 1 protein (FHL1).