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Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Grosmann C, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Savarese M, Johari M, Vihola A, Udd B, Majumdar A, Straub V, Bönnemann CG, MacArthur DG, Davis MR, Cooper ST. Bryen SJ, et al. Among authors: hu y. Hum Mutat. 2020 Feb;41(2):403-411. doi: 10.1002/humu.23938. Epub 2019 Dec 3. Hum Mutat. 2020. PMID: 31660661 Free PMC article.
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. Schessl J, et al. Among authors: hu y. J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450. J Clin Invest. 2008. PMID: 18274675 Free PMC article.
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bönnemann CG. Schessl J, et al. Among authors: hu y. Brain. 2009 Feb;132(Pt 2):452-64. doi: 10.1093/brain/awn325. Epub 2009 Jan 29. Brain. 2009. PMID: 19181672 Free PMC article.
Autosomal recessive inheritance of classic Bethlem myopathy.
Foley AR, Hu Y, Zou Y, Columbus A, Shoffner J, Dunn DM, Weiss RB, Bönnemann CG. Foley AR, et al. Among authors: hu y. Neuromuscul Disord. 2009 Dec;19(12):813-7. doi: 10.1016/j.nmd.2009.09.010. Epub 2009 Nov 1. Neuromuscul Disord. 2009. PMID: 19884007 Free PMC article.
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.
Waddell LB, Tran J, Zheng XF, Bönnemann CG, Hu Y, Evesson FJ, Lek M, Arbuckle S, Wang MX, Smith RL, North KN, Clarke NF. Waddell LB, et al. Among authors: hu y. Neuromuscul Disord. 2011 Nov;21(11):776-81. doi: 10.1016/j.nmd.2011.05.007. Epub 2011 Jun 17. Neuromuscul Disord. 2011. PMID: 21683594 Free PMC article.
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann CG, Zschocke J, Fauth C. Baumann M, et al. Among authors: hu y. Am J Hum Genet. 2012 Feb 10;90(2):201-16. doi: 10.1016/j.ajhg.2011.12.004. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265013 Free PMC article.
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