Condition: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED


rs121913000 in DES gene and MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED PMID 25313375 2014 Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

PMID 28470624 2017 αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.

PMID 25394388 2015 The toxic effect of R350P mutant desmin in striated muscle of man and mouse.

PMID 19879535 2009 Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.

PMID 27733623 2016 Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts.

PMID 15495235 2004 Desminopathies in muscle disease.

PMID 20829228 2010 De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

PMID 22395865 2012 Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.

PMID 23615443 2013 Nebulin binding impedes mutant desmin filament assembly.

PMID 10717012 2000 Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

PMID 11668632 2001 Structural and functional analysis of a new desmin variant causing desmin-related myopathy.

PMID 10905661 2000 Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.

PMID 14648196 2004 Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.

PMID 16009553 2005 A novel desmin R355P mutation causes cardiac and skeletal myopathy.

PMID 15800015 2005 Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.

PMID 12766977 2003 Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.

PMID 16865695 2006 Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

PMID 10545598 1999 A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.

PMID 23687351 2013 A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

PMID 14711882 2004 Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.

PMID 9697706 1998 Missense mutations in desmin associated with familial cardiac and skeletal myopathy.

PMID 14991347 2004 A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.

PMID 23425003 2013 Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy.

PMID 15050448 2004 Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.

PMID 21262226 2011 Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.

PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

PMID 22153487 2012 High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.

PMID 11668632 2001 We conclude that Q389P mutation is the molecular event leading to the development of desmin-related myopathy.

PMID 17221859 2007 Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.

PMID 22215463 2012 Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D.

PMID 18653338 2008 Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene.

PMID 11073539 2000 Desmin splice variants causing cardiac and skeletal myopathy.

PMID 14724127 2004 Desmin myopathy.

PMID 23815709 2013 Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.

PMID 20696008 2011 A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.

PMID 19587455 2009 Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.

PMID 12620971 2003 On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.

PMID 19716701 2009 Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy.

PMID 22275259 2012 Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.

PMID 23155419 2012 Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.

PMID 22484823 2013 Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.

PMID 23615443 2013 Here we compare the effect nebulin binding has on the assembly kinetics of desmin and three desminopathy-causing mutant desmin variants carrying mutations in the head, rod, or tail domains of desmin (S46F, E245D, and T453I).

PMID 23615443 2013 Here we compare the effect nebulin binding has on the assembly kinetics of desmin and three desminopathy-causing mutant desmin variants carrying mutations in the head, rod, or tail domains of desmin (S46F, E245D, and T453I).

PMID 20171226 2010 "Mutations in desmin's carboxy-terminal ""tail"" domain severely modify filament and network mechanics."

PMID 23349452 2013 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

PMID 20448486 2010 Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.

PMID 20423733 2010 Except for two different DES mutations (p.N342D and p.R454W) in two families with DRM and severe biventricular cardiomyopathy, respectively, we did not find additional DES mutations in ARVC(-like) patients.

PMID 25557463 2015 Autophagic vacuolar pathology in desminopathies.

PMID 22106715 2011 Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.

PMID 22403400 2012 Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.

PMID 19181099 2008 Intermediate filament diseases: desminopathy.

PMID 18765652 2008 Distinct muscle imaging patterns in myofibrillar myopathies.

PMID 17439987 2007 Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

PMID 27393313 2016 Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.

PMID 26789769 2016 Desmin Mutation in the C-Terminal Domain Impairs Traction Force Generation in Myoblasts.

PMID 16890305 2007 Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation.

PMID 23032110 2013 Functional characterization of desmin mutant p.P419S.

PMID 17418574 2007 Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 18061454 2008 Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.

PMID 17720647 2007 Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.

PMID 19763525 2009 "Disease mutations in the ""head"" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties."

PMID 9736733 1998 A dysfunctional desmin mutation in a patient with severe generalized myopathy.