Congenital myopathies: an update - Test2 - elhamkhani - TriplyDB

Congenital myopathies: an update

Congenital myopathies: an update

http://www.wikidata.org/entity/Q26824526

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Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores Critical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and Disease Kelch proteins: emerging roles in skeletal muscle development and diseases.Protein Structure-Function Relationship at Work: Learning from Myopathy Mutations of the Slow Skeletal Muscle Isoform of Troponin T Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree Recent advances using zebrafish animal models for muscle disease drug discovery KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy BIN1 membrane curvature sensing and generation show autoinhibition regulated by downstream ligands and PI(4,5)P2.Impaired embryonic motility in dusp27 mutants reveals a developmental defect in myofibril structure Integrative data mining highlights candidate genes for monogenic myopathies.SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy Tissue triage and freezing for models of skeletal muscle disease.An integrated diagnosis strategy for congenital myopathies.Triadopathies: an emerging class of skeletal muscle diseases.Aerobic Training in Patients with Congenital Myopathy.Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.Coexistence of central nucleus, cores, and rods: Diagnostic relevance.Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.Congenital myopathy is caused by mutation of HACD1.KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy.A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy.Analysis of embryonic and larval zebrafish skeletal myofibers from dissociated preparations.Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.Core myopathies and malignant hyperthermia susceptibility: a review.Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.Next generation sequencing (NGS) strategies for the genetic testing of myopathies.Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.A Rare Case of Severe Congenital RYR1-Associated Myopathy

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Congenital myopathies: an update

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Congenital myopathies: an update

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Elizabeth M. Gibbs

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P2860

Central core disease

Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients

Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo.

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila

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