Additional file 6: Figure S7. of MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

Results 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)