Variant: rs150974575 

    present in Gene: DES
    present in Chromosome: 2
    Position on Chromosome: 219423817
    Alleles of this Variant: C/T

rs150974575 in DES gene and Cardiomyopathy, Dilated PMID 20696008 2011 A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.

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

PMID 14724127 2004 Desmin myopathy.

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

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

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

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

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

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

rs150974575 in DES gene and MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 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 10717012 2000 Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

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

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.

rs150974575 in DES gene and Neuromuscular Diseases PMID 10717012 2000 Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

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

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

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

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

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.