Additional file 6: Figure S7. of MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
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posted on 2016-07-07, 05:00 authored by C. Fiorillo, G. Astrea, M. Savarese, D. Cassandrini, G. Brisca, F. Trucco, M. Pedemonte, R. Trovato, L. Ruggiero, L. Vercelli, A. D’Amico, G. Tasca, M. Pane, M. Fanin, L. Bello, P. Broda, O. Musumeci, C. Rodolico, S. Messina, G. Vita, M. Sframeli, S. Gibertini, L. Morandi, M. Mora, L. Maggi, A. Petrucci, R. Massa, M. Grandis, A. Toscano, E. Pegoraro, E. Mercuri, E. Bertini, T. Mongini, L. Santoro, V. Nigro, C. Minetti, F. Santorelli, C. BrunoResults of mRNA analysis on patients 7 and 18. PCR reactions, performed using cDNA synthesized from muscle total RNA of patients 7 (c.5655 + 1G > A) and 18 (c.5655G > A), result into an additional short fragment, because of an abnormal splicing. The sequences of the normal size fragment showed the normal exon37-exon38 boundary; electropherograms of the short fragment show the skipping of exon38 and the exon37-exon39 junction. Red circles indicate the genomic position of the mutated nucleotides. (JPG 514 kb)
