File:Point mutations resulting in DMD.jpg
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This image is a visual display of the different types of mutations of the dystrophin gene that result in different forms of musuclar dystrophy. The first reading frame is that of a normal dystrophin gene and can be compared to the second reading frame that reflects a point mutation in which one of the bases has been altered, resulting in an abnormal production of dystrophin. This type of mutation results in what is clinically known as Becker’s Muscular Dystrophy (BMD). The second reading frame can then be further compared to the final reading frame that has a point deletion mutation, resulting in a new reading frame for this particular gene. The end result is a truncated protein product that is known as Duchenne Muscular Dystrophy (DMD).
Cite this page: Hill, M.A. (2021, July 24) Embryology Point mutations resulting in DMD.jpg. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/File:Point_mutations_resulting_in_DMD.jpg
- © Dr Mark Hill 2021, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G.
Image creator: Ashleigh Pontifex (z3332629)
Student image constructed based on the image presented on: http://emedicine.medscape.com/article/1173204-overview#a0104
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Point mutations resulting in Muscular Dystrophy by Ashleigh Pontifex is licensed under a <a rel="license" href="http://creativecommons.org/licenses/by-nd/3.0/au/">Creative Commons Attribution-NoDerivs 3.0 Australia License</a>.
Based on a work at <a xmlns:dct="http://purl.org/dc/terms/" href="http://emedicine.medscape.com/article/1173204-overview#a0104" rel="dct:source">emedicine.medscape.com</a>. Point mutations resulting in Muscular Dystrophy by Ashleigh Pontifex is licensed under a Creative Commons Attribution-NoDerivs 3.0 Australia License. Based on a work at emedicine.medscape.com.
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|current||08:42, 4 October 2011||2,051 × 1,131 (412 KB)||Z3332629||This image is a visual display of the different types of mutations of the dystrophin gene that result in different forms of musuclar dystrophy. The first reading frame is that of a normal dystrophin gene and can be compared to the second reading frame tha|