Group:MUZIC:MLP: Difference between revisions

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== Pathology ==

Mutations on the first LIM domain have been linked to familial hypertrophic cardiomyopathy (HCM). All of them ('''L44P, S54R, E55G, C58G''') are related to the proper binding of Zinc to the protein, thus causing conformational alterations. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death <ref>PMID:12642359</ref>.

The mutation '''W4R''' in CSRP3 has been reported to cause dilated cardiomyopathy of type 1Mv~~(DCM)~~. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia and patients have the risk of premature death <ref>PMID:12507422</ref>. However a more recent report demonstrates that the W4R mutation is not sufficient to cause DCM <ref>PMID:18505755</ref>.

The mutation '''W4R''' in CSRP3 has been reported to cause dilated cardiomyopathy (DCM) of type 1Mv. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia and patients have the risk of premature death <ref>PMID:12507422</ref>. However a more recent report demonstrates that the W4R mutation is not sufficient to cause DCM <ref>PMID:18505755</ref>.

== References ==

Group:MUZIC:MLP: Difference between revisions

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@@ Line 19: / Line 19: @@
 == Pathology ==
 Mutations on the first LIM domain have been linked to familial hypertrophic cardiomyopathy (HCM). All of them ('''L44P, S54R, E55G, C58G''') are related to the proper binding of Zinc to the protein, thus causing conformational alterations. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death <ref>PMID:12642359</ref>.
-The mutation '''W4R''' in CSRP3 has been reported to cause dilated cardiomyopathy of type 1Mv(DCM). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia and patients have the risk of premature death <ref>PMID:12507422</ref>. However a more recent report demonstrates that the W4R mutation is not sufficient to cause DCM <ref>PMID:18505755</ref>.
+The mutation '''W4R''' in CSRP3 has been reported to cause dilated cardiomyopathy (DCM) of type 1Mv. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia and patients have the risk of premature death <ref>PMID:12507422</ref>. However a more recent report demonstrates that the W4R mutation is not sufficient to cause DCM <ref>PMID:18505755</ref>.
 == References ==
 <references />