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Figure 2 | BMC Medical Genetics

Figure 2

From: Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

Figure 2

Patient I: stop codon at the 3' end of DMD gene in mild BMD phenotype. Molecular and muscle biopsy features in patient I. The patient showed a mild BMD phenotype and carried a mutation that creates a stop codon at the 3' end of the DMD gene. In the upper part of the figure, the schematic representation of the DMD gene depicts the position of the mutation, which is located in exon 74. A. Sequence analysis of genomic DNA. Pt (Patient I): The electropherogram depicts the single base pair insertion c.10453insC (black arrow). Under the electropherogram, the predicted amino acid sequence demonstrates the effect of the mutation, which leads to the out-of-frame transcript p.Leu3485ProfsX6. Ctr: Control. B. Dystrophin Western blot analysis of a muscle biopsy sample from patient I revealed decreased immunoblot staining with antibody directed against the dystrophin mid-rod domain (DYS1), and absence of signal with antibodies directed towards the C-terminal epitope (DYS2). Ctr: Control muscle sample.

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BMC Medical Genetics

ISSN: 1471-2350

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