View source for Dystrophin

Dystrophin is a very large [[Protein|protein]], in fact the [[Gene|gene]] that encodes it, also called dystophin, is the greatest in size within the human body <ref>[Online Mendelian Inheritance in Man (1966-2015) "MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD" Available at:http://omim.org/entry/310200?search=duchenne%20muscular%20dystrophy&amp;amp;highlight=duchenne%20dystrophy%20muscular. Last accessed 22/10/2015]</ref>. The protein plays an important role in [[Muscle|muscle]] cohesion both in myogenic and skeletal muscle. It does so by forming a group with other proteins, otherwise known as a protein complex, which is involved in connecting the [[Cytoskeleton|cytoskeleton]] of the muscle cells to one another. This aids the muscles' strength right down to individual muscle fibres and allows for contraction and relaxation of muscles without such movement would not be possible <ref>[Online Mendelian Inheritance in Man (1966-2015) "MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD" Available at:http://omim.org/entry/310200?search=duchenne%20muscular%20dystrophy&amp;amp;highlight=duchenne%20dystrophy%20muscular. Last accessed 22/10/2015]</ref>. 

=== Diseases associated with abnormal dystrophin  ===

*[[Duchenne muscular Dystrophy|Duchenne muscular Dystrophy]] (DMD) - this phenotype can be mapped to Xp21.2-p21.1 on the [[genome|genome]]. DMD can affect many regions of the body including [[Muscles]] located within the [[Heart]], eyes and nervous system. However it must be added that some of these phenotypes may as a result of [[Pleiotropy]] and not as a direct result of the condition<ref>[Online Mendelian Inheritance in Man (1966-2015) "MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD" Available at:http://omim.org/entry/310200?search=duchenne%20muscular%20dystrophy&amp;amp;highlight=duchenne%20dystrophy%20muscular. Last accessed 22/10/2015]</ref>. 
*[[Becker muscular dystrophy|Becker muscular dystrophy]]
*DMD-associated dilated cardiomyopathy<br>

=== References  ===

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