Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy

Neal K Lakdawala; Jens J Thune; Steven D Colan; Allison L Cirino; Faranak Farrohi; Jose Rivero; Barbara McDonough; Elizabeth Sparks; E J Orav; J G Seidman; Christine E Seidman; Carolyn Y Ho

doi:10.1161/CIRCGENETICS.112.962761

Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy

Neal K Lakdawala, Jens J Thune, Steven D Colan, Allison L Cirino, Faranak Farrohi, Jose Rivero, Barbara McDonough, Elizabeth Sparks, E J Orav, J G Seidman, Christine E Seidman, Carolyn Y Ho

73 Citationer (Scopus)

Abstract

Sarcomere mutations cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM); however, the steps leading from mutation to disease are not well described. By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere mutations in DCM and investigate how these manifestations differ from sarcomere mutations associated with HCM.

Originalsprog	Engelsk
Tidsskrift	Circulation: Cardiovascular Genetics
Vol/bind	5
Udgave nummer	5
Sider (fra-til)	503-10
Antal sider	8
ISSN	1942-325X
DOI	https://doi.org/10.1161/CIRCGENETICS.112.962761
Status	Udgivet - 2012

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10.1161/CIRCGENETICS.112.962761

Citationsformater

Lakdawala, N. K., Thune, J. J., Colan, S. D., Cirino, A. L., Farrohi, F., Rivero, J., McDonough, B., Sparks, E., Orav, E. J., Seidman, J. G., Seidman, C. E., & Ho, C. Y. (2012). Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy. Circulation: Cardiovascular Genetics, 5(5), 503-10. https://doi.org/10.1161/CIRCGENETICS.112.962761

Lakdawala, NK, Thune, JJ, Colan, SD, Cirino, AL, Farrohi, F, Rivero, J, McDonough, B, Sparks, E, Orav, EJ, Seidman, JG, Seidman, CE & Ho, CY 2012, 'Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy', Circulation: Cardiovascular Genetics, bind 5, nr. 5, s. 503-10. https://doi.org/10.1161/CIRCGENETICS.112.962761

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title = "Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy",

abstract = "Sarcomere mutations cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM); however, the steps leading from mutation to disease are not well described. By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere mutations in DCM and investigate how these manifestations differ from sarcomere mutations associated with HCM.",

author = "Lakdawala, {Neal K} and Thune, {Jens J} and Colan, {Steven D} and Cirino, {Allison L} and Faranak Farrohi and Jose Rivero and Barbara McDonough and Elizabeth Sparks and Orav, {E J} and Seidman, {J G} and Seidman, {Christine E} and Ho, {Carolyn Y}",

year = "2012",

doi = "10.1161/CIRCGENETICS.112.962761",

language = "English",

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AU - Lakdawala, Neal K

AU - Thune, Jens J

AU - Colan, Steven D

AU - Cirino, Allison L

AU - Farrohi, Faranak

AU - Rivero, Jose

AU - McDonough, Barbara

AU - Sparks, Elizabeth

AU - Orav, E J

AU - Seidman, J G

AU - Seidman, Christine E

AU - Ho, Carolyn Y

PY - 2012

Y1 - 2012

N2 - Sarcomere mutations cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM); however, the steps leading from mutation to disease are not well described. By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere mutations in DCM and investigate how these manifestations differ from sarcomere mutations associated with HCM.

AB - Sarcomere mutations cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM); however, the steps leading from mutation to disease are not well described. By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere mutations in DCM and investigate how these manifestations differ from sarcomere mutations associated with HCM.

U2 - 10.1161/CIRCGENETICS.112.962761

DO - 10.1161/CIRCGENETICS.112.962761

M3 - Journal article

C2 - 22949430

SN - 1942-325X

VL - 5

SP - 503

EP - 510

JO - Circulation: Cardiovascular Genetics

JF - Circulation: Cardiovascular Genetics

IS - 5

ER -

Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy

Abstract

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