Condition: BETHLEM MYOPATHY 2
rs1274606112 in
COL12A1 gene and
BETHLEM MYOPATHY 2
PMID 24334769 2014 Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
PMID 24334604 2014 Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
PMID 27159402 2016 Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
PMID 27348394 2017 Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.