CareLit · DOI-Nachweis · Klinische Neurophysiologie
Proteomic identification of the LIM domain protein FHL1 as the gene-product mutated in reducing body myopathy
DOI 10.1055/s-0029-1216187
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Autor:innenJ 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
ZeitschriftKlinische Neurophysiologie
Ausgabe03/2009
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
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…
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Zitierempfehlung
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 (2009) Proteomic identification of the LIM domain protein FHL1 as the gene-product mutated in reducing body myopathy. Klinische Neurophysiologie (03). https://doi.org/10.1055/s-0029-1216187
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