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Shalaby S, Mitsuhashi H, Matsuda C, Minami N, Noguchi S, Nonaka I, Nishino I, Hayashi YK. Defective Myotilin Homodimerization Caused by a Novel Mutation in MYOT Exon 9 in the First Japanese Limb Girdle Muscular Dystrophy 1A Patient. Journal of Neuropathology and Experimental Neurology. 2009 Jun;68(6):701–7. doi: 10.1097/nen.0b013e3181a7f703. |