Variant: rs121908334 

    present in Gene: LDB3
    present in Chromosome: 10
    Position on Chromosome: 86687218
    Alleles of this Variant: C/T

rs121908334 in LDB3 gene and Neuromuscular Diseases PMID 19377068 2009 Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy.

PMID 27618136 2016 Mitochondrial dysfunction in myofibrillar myopathy.

PMID 24647531 2014 ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle.

PMID 24668811 2014 Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.

PMID 15668942 2005 Mutations in ZASP define a novel form of muscular dystrophy in humans.

PMID 18765652 2008 Distinct muscle imaging patterns in myofibrillar myopathies.

PMID 17337483 2007 Zaspopathy in a large classic late-onset distal myopathy family.

PMID 28349680 2017 Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin.