Condition: CARDIOMYOPATHY, DILATED, 1II
rs1114167341 in
CRYAB gene and
CARDIOMYOPATHY, DILATED, 1II
PMID 26627873 2016 Targeted next-generation sequencing assay for detection of mutations in primary myopathies.
PMID 28493373 2017 The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.
PMID 21920752 2012 A novel CRYAB mutation resulting in multisystemic disease.
PMID 23194663 2013 Mutants of human αB-crystallin cause enhanced protein aggregation and apoptosis in mammalian cells: influence of co-expression of HspB1.
PMID 16483541 2006 Alpha B-crystallin mutation in dilated cardiomyopathy.
PMID 16793013 2006 alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands.
PMID 27226619 2016 The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility.
PMID 21130652 2011 Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.