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).


Note - This image was originally uploaded as part of a student project and may contain inaccuracies in either description or acknowledgements. Students have been advised in writing concerning the reuse of content and may accidentally have misunderstood the original terms of use. If image reuse on this non-commercial educational site infringes your existing copyright, please contact the site editor for immediate removal.




Cite this page: Hill, M.A. (2024, March 29) 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

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© Dr Mark Hill 2024, 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

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.

<a rel="license" href="http://creativecommons.org/licenses/by-nd/3.0/au/"><img alt="Creative Commons License" style="border-width:0" src="http://i.creativecommons.org/l/by-nd/3.0/au/88x31.png" /></a>
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>.

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current09:42, 4 October 2011Thumbnail for version as of 09:42, 4 October 20112,051 × 1,131 (412 KB)Z3332629 (talk | contribs)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

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