Paternal germline mosaicism in collagen VI related myopathies

• Published in: European journal of paediatric neurology Vol. 19; no. 5; pp. 533 - 536
• Main Authors: Armaroli, Annarita, Trabanelli, Cecilia, Scotton, Chiara, Venturoli, Anna, Selvatici, Rita, Brisca, Giacomo, Merlini, Luciano, Bruno, Claudio, Ferlini, Alessandra, Gualandi, Francesca
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.09.2015
• Subjects: Collagen Type VI - genetics; Collagen VI; Exons; Germline mosaicism; Heterozygote; Humans; Male; Mosaicism; Muscular Dystrophies - genetics; Mutation, Missense; Neurology; Pediatrics; Pedigree; Sclerosis - genetics; Siblings; UCMD; Germline mosaicism; Collagen VI; UCMD

Abstract Background Collagen VI-related disorders are a group of muscular diseases characterized by muscle wasting and weakness, joint contractures, distal laxity, serious respiratory dysfunction and cutaneous alterations, due to mutations in the COL6A1, COL6A2 and COL6A3 genes, encoding for collage...