Proteomic identification of the LIM domain protein FHL1 as the gene-product mutated in reducing body myopathy
J Schessl, Y Zou, MJ McGrath, BS Cowling, B Maiti, SS Chin, C Sewry, R Battini, Y Hu, DL Cottle, M Rosenblatt, L Spruce, A Ganguly, J Kirschner, AR Judkins, JA Golden, HH Goebel, AL Taratuto, F Muntoni, KM Flanigan, CA Mitchell, CG Bönnemann · Klinische Neurophysiologie · 2009 · Heft 03
Bibliografische Angaben
Zusammenfassung
Reducing body myopathy (RBM) is a rare progressive myopathy defined by characteristic aggresome-like inclusions in muscle. Traditional gene identification in this disease has been complicated by the frequently sporadic occurrence of patients and small family sizes. As an alternative approach we used laser microdissection of the intracytoplasmic inclusions followed by nanoflow LC-MS/MS coupled with proteomic analysis, to identify FHL1 (SLIM1), encoded on Xq26.3, as the most prominent component of the inclusions. FHL1 belongs to the family of four and a half LIM domain proteins (FHL1–5); it is predominantly expres…
