Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
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Pathogenic mechanisms in centronuclear myopathiesHeart Disease in Disorders of Muscle, Neuromuscular Transmission, and the NervesPathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusTargeting the sarcomere to correct muscle functionThe transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle diseaseAxial myopathy: an overlooked feature of muscle diseases.Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.Mechanotransduction in cardiac hypertrophy and failure.Prevalence of Titin Truncating Variants in General Population.A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathyExpanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.Increasing Role of Titin Mutations in Neuromuscular Disorders.A rising titan: TTN review and mutation update.The neuromuscular differential diagnosis of joint hypermobility.The sarcomeric M-region: a molecular command center for diverse cellular processes.Titin mutations: the fall of Goliath.Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood.Myopathology in congenital myopathies.Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.Overview of the Muscle Cytoskeleton.Binding partners of the kinase domains in Drosophila obscurin and their effect on the structure of the flight muscle.Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.TITINdb-a computational tool to assess titin's role as a disease gene.Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.[Titin-related muscle disorders: an expanding spectrum].Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.Pathology provides clarity in the next-generation sequencing era.Congenital titinopathy: Comprehensive characterisation and pathogenic insights.CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.Tackling the achilles' heel of genetic testing.Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.
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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 08 October 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Recessive TTN truncating mutat ...... e myopathy with heart disease.
@en
Recessive TTN truncating mutat ...... e myopathy with heart disease.
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type
label
Recessive TTN truncating mutat ...... e myopathy with heart disease.
@en
Recessive TTN truncating mutat ...... e myopathy with heart disease.
@nl
prefLabel
Recessive TTN truncating mutat ...... e myopathy with heart disease.
@en
Recessive TTN truncating mutat ...... e myopathy with heart disease.
@nl
P2093
P2860
P50
P356
P1476
Recessive TTN truncating mutat ...... e myopathy with heart disease.
@en
P2093
A Reghan Foley
Alexander Alexandrovich
Ana Ferreiro
Anna Vihola
Ay Lin Kho
Beril Talim
Beth Kaufmann
Bjarne Udd
Carsten G Bonnemann
Cedric Julien
P2860
P304
P356
10.1093/HMG/DDT494
P577
2013-10-08T00:00:00Z