Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy.

Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy.

OBJECTIVES: We investigated cardiac energetics in subjects with mutations in three different familial hypertrophic cardiomyopathy (HCM) disease genes, some of whom were nonpenetrant carriers without hypertrophy, using phosphorus-31 magnetic resonance spectroscopy. BACKGROUND: Familial hypertrophic c...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Crilley, J, Boehm, E, Blair, E, Rajagopalan, B, Blamire, A, Styles, P, McKenna, W, Ostman-Smith, I, Clarke, K, Watkins, H
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	2003

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ανά: Anna Wålinder Österberg, κ.ά.
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ανά: Geier, C, κ.ά.
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ανά: Blair, E, κ.ά.
Έκδοση: (2000)

The genetics of hypertrophic cardiomyopathy: Teare redux.
ανά: Watkins, H, κ.ά.
Έκδοση: (2008)

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ανά: Alessandro Galluzzo, κ.ά.
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ανά: Dulce Brito, κ.ά.
Έκδοση: (2012-09-01)

The prognostic impact of septal myectomy in obstructive hypertrophic cardiomyopathy.
ανά: Watkins, H, κ.ά.
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ανά: S. M. Komissarova, κ.ά.
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Disease pathways and novel therapeutic targets in hypertrophic cardiomyopathy.
ανά: Ashrafian, H, κ.ά.
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The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye
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ανά: Hyemoon Chung, κ.ά.
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Myosin sequestration regulates sarcomere function, cardiomyocyte energetics, and metabolism, informing the pathogenesis of hypertrophic cardiomyopathy
ανά: Toepfer, CN, κ.ά.
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Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
ανά: Blair, E, κ.ά.
Έκδοση: (2003)

Linked genetic modifiers in hypertrophic cardiomyopathy
ανά: Ektisham, J, κ.ά.
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Subaortic and midventricular obstructive hypertrophic cardiomyopathy with extreme segmental hypertrophy
ανά: Karoulas Takis, κ.ά.
Έκδοση: (2007-03-01)

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
ανά: Thomson, K, κ.ά.
Έκδοση: (2018)

Assessment of myocardial work in sarcomere gene mutation carriers, healthy controls and overt nonobstructive hypertrophic cardiomyopathy
ανά: Carla Marques Pires, κ.ά.
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Proteomic and phosphoproteomic analyses of myectomy tissue reveals difference between sarcomeric and genotype-negative hypertrophic cardiomyopathy
ανά: Ramin Garmany, κ.ά.
Έκδοση: (2023-09-01)

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
ανά: Ashrafian, H, κ.ά.
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Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
ανά: Carballo, S, κ.ά.
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ανά: Crilley, J, κ.ά.
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Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
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Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
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