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Discuss the biology of muscular dystrophy

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Discuss the biology of muscular dystrophy One of the most baffling diseases is muscular dystrophy. Muscular dystrophy (MD) is a group of genetic disease that causes weakness and progressive degeneration of skeletal muscles. There are 9 major forms of MD - Duchenne, Becker, myotonic, limb-girdle, facioscapulohumeral, oculopharyngeal, Emery-Dreifuss, distal and congenital(Parker 2002). This essay will focus on the causes and pathological effects of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) which are the most prevalent form of muscular dystrophy. DMD and BMD are the most common childhood forms of muscular dystrophy. DMD was first described by the French physician Duchenne de Boulogne in 1868 (Hendriksen & Vles 2006). Beggs & Kunkel (1990) noted that DMD affects 1 in 3500 males while one third of the cases are sporadic with no previous family history of DMD. DMD and BMD are X-linked recessive muscle-wasting disorders which normally occur in man. They are caused by mutation in a gene located on the X-chromosome which codes for a protein called dystrophin (Cyrulnik & Hinton 2008). Campbell (1995) stated that the gene is extremely large and complex. Its locus extends over 2400 kb and approximately 14 kb is transcribed into an mRNA comprising 79 exons (Fig1). Fig1. The dystrophin gene. A map of the 79 exons of dystrophin, spanning 2.4million bases and shows the 5 different promoters(C,M,P,S,G). ...read more.


To convert this to a mark out of 10, divide the percentage by 10. e.g. A percentage of 75% converts to a mark of 7.5/10. Objective/Criteria Performance Indicators Fail Pass C D HD Introduction provides context for the essay (2 points) Your introduction did not provide any context to the topic (2.5 points) Your introduction provided some context for the topic (3 points) An attempt to establish the context for the essay. Adequate explanation of the background, lacking in detail. Thesis states the position. (4 points) Introduction creates interest. Thesis clearly states the position. (5 points) Well-developed introduction engages the reader and creates interest. Contains detailed background information. Introduction previews the shape of the essay (2 points) Your introduction did not indicate, to any degree, what will be covered in the essay (2.5 points) Your introduction provides only a highly restricted outline of the main thesis and supporting ideas (3 points) Your introduction provides a restricted outline of the main thesis. Outline of the main ideas requires more detail. (4 points) Your thesis statement is relevant and supporting ideas are outlined. (5 points) Contains a relevant thesis statement, and supporting ideas are outlined to an excellent level. Use of sufficient range of relevant concepts and ideas from appropriate sources (2 points) Demonstrates minimal evidence of research. No references. (2.5 points) Demonstrates very limited research with very limited or no support material presented. ...read more.


Topic sentences used to good effect. Transitional language supports the argument and aids coherency. (9 points) Paragraphs support essay structure with excellent links to the topic/thesis. Topic sentences introduce the main point of the paragraph. Excellent use of transition language identifies progression of argument and creates cohesion. Overall use and quality of language (4 points) Language use severely restricts writer's success. Some attempt at technical language. Incorrect spelling limits meaning. (5 points) Language use does not always support writer's aims. Technical language used with some success. (6.5 points) Language use supports the writer's aims. Technical language is used, with some proficiency, Spelling mostly accurate. (7.5 points) Language use effectively achieves writer's goals. Technical language ably used. Spelling mostly accurate. (9 points) Language use supports the writer's goals to a very high standard. Technical language used as required. Spelling is accurate. In-text referencing correctly formatted (2 points) Minimal understanding of citing conventions for in-text referencing. (2.5 points) In-text citing uses some conventions, but with quite a few errors (3 points) In-text sources cited in the academic style with some errors (4 points) In-text references cited in academic style with very few errors (5 points) All in-text sources referenced correctly Reference list correctly formatted (1 points) No reference list or serious errors in reference list construction (2.5 points) Reference list provided, but errors in structure or omission of many cited references (3 points) Reference list has some errors in structure. All cited references are listed. (4 points) Reference list has minor error or 2 in structure. All cited references are listed. ...read more.

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