Figure 3From: Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing Patient III: Nonsense mutation at the 3' end of DMD gene in severe BMD phenotype. The mutation is localized in exon 75 (see schematic representation of the DMD gene).. Sequence analysis revealed the nucleotide substitution c.10783C>T (black arrow). This mutation leads to the creation of a stop codon (p.Gln3595X).Back to article page