Variant: rs121913002 

    present in Gene: DES
    present in Chromosome: 2
    Position on Chromosome: 219425727
    Alleles of this Variant: C/A;G;T

rs121913002 in DES gene and CARDIOMYOPATHY, DILATED, 1I PMID 10430757 1999 Desmin mutation responsible for idiopathic dilated cardiomyopathy.

PMID 26724190 2016 Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.

PMID 24200904 2013 The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.

rs121913002 in DES gene and MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED PMID 23687351 2013 A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

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

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

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

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

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

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

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

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

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

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

PMID 15495235 2004 Desminopathies in muscle disease.

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

PMID 23615443 2013 Nebulin binding impedes mutant desmin filament assembly.

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

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

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