Variant: rs140108514 

    present in Gene: DYSF
    present in Chromosome: 2
    Position on Chromosome: 71568083
    Alleles of this Variant: G/A

rs140108514 in DYSF gene and Dysferlinopathy PMID 25312915 2014 Identification of splicing defects caused by mutations in the dysferlin gene.

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

PMID 18853459 2009 Analysis of the DYSF mutational spectrum in a large cohort of patients.

PMID 22246893 2012 An autopsy case of a dysferlinopathy patient with cardiac involvement.

PMID 23243261 2013 Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

PMID 21816046 2011 Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I.

PMID 17698709 2007 Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

PMID 12796534 2003 Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.

rs140108514 in DYSF gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B PMID 23243261 2013 Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

PMID 25312915 2014 Identification of splicing defects caused by mutations in the dysferlin gene.

PMID 24488599 2014 Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.

PMID 11532985 2001 The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

PMID 12796534 2003 Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.

PMID 18853459 2009 Analysis of the DYSF mutational spectrum in a large cohort of patients.

rs140108514 in DYSF gene and Miyoshi myopathy PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.