Figure 4 | European Journal of Human Genetics

Figure 4

From: Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

Figure 4

Non-stop mutation. (a and b) Analysis of DNA sequence obtained from a control (a) and a patient (b). The mutated base is highlighted in blue. The sequence of exon 55 shows a homozygous deletion of 8 bp (g. 6233_6240del; p. Pro2078LeufsNON STOP). The frameshift skips the stop codon and produces hypothetically the translation of 97 additional amino acids. Both nucleotide and translated sequences are reported for both samples. (c) The picture shows the western blot on muscle lysate from a patient (X295) and control (c). As observed, patient X295 showed a residual expression (<10%) of larger sized Dysferlin, compared with the control. The color reproduction of this figure is available on the html full text version of the manuscript.

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