MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction
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MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction. / Behrens-Gawlik, Verena; Mearini, Giulia; Gedicke-Hornung, Christina; Richard, Pascale; Carrier, Lucie.
in: PFLUG ARCH EUR J PHY, Jahrgang 466, Nr. 2, 01.02.2014, S. 215-223.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction
AU - Behrens-Gawlik, Verena
AU - Mearini, Giulia
AU - Gedicke-Hornung, Christina
AU - Richard, Pascale
AU - Carrier, Lucie
PY - 2014/2/1
Y1 - 2014/2/1
N2 - Mutations in MYBPC3 gene, encoding cardiac myosin-binding protein C (cMyBP-C), frequently cause hypertrophic cardiomyopathy (HCM), which affects 0.2 % of the general population. This myocardial autosomal-dominant disorder is the leading cause of sudden cardiac death particularly in young athletes. The current pharmacological and surgical treatments of HCM focus on symptoms relief, but do not address the cause of the disease. With the development of novel strategies targeting the endogenous mutation, causal HCM therapy is now possible. This review will discuss the current knowledge on HCM from the identification of MYBPC3 gene mutations to potential RNA-based correction.
AB - Mutations in MYBPC3 gene, encoding cardiac myosin-binding protein C (cMyBP-C), frequently cause hypertrophic cardiomyopathy (HCM), which affects 0.2 % of the general population. This myocardial autosomal-dominant disorder is the leading cause of sudden cardiac death particularly in young athletes. The current pharmacological and surgical treatments of HCM focus on symptoms relief, but do not address the cause of the disease. With the development of novel strategies targeting the endogenous mutation, causal HCM therapy is now possible. This review will discuss the current knowledge on HCM from the identification of MYBPC3 gene mutations to potential RNA-based correction.
U2 - 10.1007/s00424-013-1409-7
DO - 10.1007/s00424-013-1409-7
M3 - SCORING: Journal article
C2 - 24337823
VL - 466
SP - 215
EP - 223
JO - PFLUG ARCH EUR J PHY
JF - PFLUG ARCH EUR J PHY
SN - 0031-6768
IS - 2
ER -