Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy

V.A. Gupta, Gina Ravenscroft, R. Shaheen, Emily Todd, L.C. Swanson, M. Shiina, K. Ogata, C. Hsu, N.F. Clarke, B.T. Darras, M.A. Farrar, A. Hashem, N.D. Manton, F. Muntoni, K.N. North, S.A. Sandaradura, I. Nishino, Y.K. Hayashi, C.A. Sewry, E.M. ThompsonKyle Yau, C.A. Brownstein, T.W. Yu, Richard Allcock, M.R. Davis, C. Wallgren-Pettersson, N. Matsumoto, F.S. Alkuraya, Nigel Laing, A.H. Beggs

Research output: Contribution to journalArticlepeer-review

126 Citations (Scopus)
Original languageEnglish
Pages (from-to)1108-1117
JournalAmerican Journal of Human Genetics
Volume93
DOIs
Publication statusPublished - 2013

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