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A mutation in myotilin causes spheroid body myopathy.
Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC. Foroud T, et al. Among authors: azzarelli b. Neurology. 2005 Dec 27;65(12):1936-40. doi: 10.1212/01.wnl.0000188872.28149.9a. Neurology. 2005. PMID: 16380616
Spheroid body myopathy revisited.
Goebel HH, D'Agostino AN, Wilson J, Cole G, Foroud T, Koller D, Farlow M, Azzarelli B, Muller J. Goebel HH, et al. Among authors: azzarelli b. Muscle Nerve. 1997 Sep;20(9):1127-36. doi: 10.1002/(sici)1097-4598(199709)20:9<1127::aid-mus6>3.0.co;2-a. Muscle Nerve. 1997. PMID: 9270668
63 results