Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.
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Targeting the sarcomere to correct muscle functionBiallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline MyopathyDissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approachRbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy.Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers.Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy.
P2860
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P2860
Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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name
Novel mutations in the sarcome ...... s with dilated cardiomyopathy.
@ast
Novel mutations in the sarcome ...... s with dilated cardiomyopathy.
@en
type
label
Novel mutations in the sarcome ...... s with dilated cardiomyopathy.
@ast
Novel mutations in the sarcome ...... s with dilated cardiomyopathy.
@en
prefLabel
Novel mutations in the sarcome ...... s with dilated cardiomyopathy.
@ast
Novel mutations in the sarcome ...... s with dilated cardiomyopathy.
@en
P2093
P2860
P356
P1476
Novel mutations in the sarcome ...... ts with dilated cardiomyopathy
@en
P2093
Anette Richter
Bernhard Maisch
German Competence Network Heart Failure
Maximilian G Posch
Sabine Pankuweit
Sarah Ackermann
Silke R Sperling
Thomas Meyer
Volker Ruppert
P2860
P2888
P304
P356
10.1038/EJHG.2012.173
P577
2012-08-15T00:00:00Z