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Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest. 2008 Mar; 118(3):904-12.

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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.