Article
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2017
D'Amico Adele, Fattori Fabiana, Tasca Giorgio, Petrini Stefania, Gualandi Francesca, Bruselles Alessandro, D'Oria Valentina, Verardo Margherita, Carrozzo Rosalba, Niceta Marcello, Udd Bjarne, Ferlini Alessandra, Tartaglia Marco, Bertini Enrico
Abstract excerpt
BACKGROUND: Collagen VI-related disorders (COL6-RD) are a group of heterogenous muscular diseases due to mutations in the COL6A1, COL6A2 and COL6A3 genes, encoding for collagen VI, a critical component of the extracellular matrix. Ullrich congenital muscle disorder and Bethlem myopathy represent the ends of a clinical spectrum that includes intermediate phenotypes of variable severity. UCMD are caused by...
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