Condition: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2


rs1274606112 in COL12A1 gene and ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 PMID 27348394 2017 Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

PMID 27159402 2016 Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

PMID 24334604 2014 Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

PMID 24334769 2014 Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.