Genes Encoding Mitochondrial Proteins
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Revision as of 19:55, 13 September 2013
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====Genes Encoding Plasma Membrane Proteins====
====Genes Encoding Plasma Membrane Proteins====
*[[Laminin alpha 4]], [[LAMA4]]
*[[Laminin alpha 4]], [[LAMA4]]
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*[[Sarcoglycan delta]], [[SGCD
]], for information on genetic testing options [[genetests.org]], [[601411
]]
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*[[Sarcoglycan delta]], [[SGCD]]
====Genes Encoding Cytoskeletal Proteins====
====Genes Encoding Cytoskeletal Proteins====
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**[[Spectrin repeat containing, nuclear envelope 2]], [[SYNE2]]
**[[Spectrin repeat containing, nuclear envelope 2]], [[SYNE2]]
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The
roar of
whole exome and whole genome sequencing
technology
has significantly increased the number of rare variants that are associated with dilated cardiomyopathy <ref name="pmid23281406">{{cite journal| author=McNally EM, Golbus JR, Puckelwartz MJ| title=Genetic mutations and mechanisms in dilated cardiomyopathy. | journal=J Clin Invest | year= 2013 | volume= 123 | issue= 1 | pages= 19-26 | pmid=23281406 | doi=10.1172/JCI62862 | pmc=PMC3533274 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23281406 }} </ref>. A challenge in the field today is that many individuals without disease carry rare variants in their genome. Thus the task at hand is not in the sequencing but rather in the translation to define if the rare variants discovered are in fact pathophysiologic in nature. Secondly, evidence is accumulating that many patients with dilated cardiomyopathy may have many different mutations that contribute to or modify disease. <ref name="pmid22763267">{{cite journal| author=Golbus JR, Puckelwartz MJ, Fahrenbach JP, Dellefave-Castillo LM, Wolfgeher D, McNally EM| title=Population-based variation in cardiomyopathy genes. | journal=Circ Cardiovasc Genet | year= 2012 | volume= 5 | issue= 4 | pages= 391-9 | pmid=22763267 | doi=10.1161/CIRCGENETICS.112.962928 | pmc=PMC3495587 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22763267 }} </ref>
+
The
increase in
whole exome and whole genome sequencing has significantly increased the number of rare variants that are associated with dilated cardiomyopathy <ref name="pmid23281406">{{cite journal| author=McNally EM, Golbus JR, Puckelwartz MJ| title=Genetic mutations and mechanisms in dilated cardiomyopathy. | journal=J Clin Invest | year= 2013 | volume= 123 | issue= 1 | pages= 19-26 | pmid=23281406 | doi=10.1172/JCI62862 | pmc=PMC3533274 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23281406 }} </ref>. A challenge in the field today is that many individuals without disease carry rare variants in their genome. Thus the task at hand is not in the sequencing but rather in the translation to define if the rare variants discovered are in fact pathophysiologic in nature. Secondly, evidence is accumulating that many patients with dilated cardiomyopathy may have many different mutations that contribute to or modify disease. <ref name="pmid22763267">{{cite journal| author=Golbus JR, Puckelwartz MJ, Fahrenbach JP, Dellefave-Castillo LM, Wolfgeher D, McNally EM| title=Population-based variation in cardiomyopathy genes. | journal=Circ Cardiovasc Genet | year= 2012 | volume= 5 | issue= 4 | pages= 391-9 | pmid=22763267 | doi=10.1161/CIRCGENETICS.112.962928 | pmc=PMC3495587 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22763267 }} </ref>
+
+
===Genetic Testing===
===Associated Conditions===
===Associated Conditions===