Title: | Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies |
Journal : | Clinical genetics |
Authors: | Fan Y, Author ; Liu A ; Wei C ; Yang H ; Chang X ; Wang S ; Yuan Y ; Bonnemann C ; Wu Q ; Wu X ; Xiong H |
Material Type: | Article |
Publication Date: | 08/02/2018 |
Languages: | English |
Keywords : | China ; clinical presentation ; COL6 gene ; collagen VI ; collagen VI related disease ; gène COL6A1 ; gène COL6A2 ; gène COL6A3 ; genetic analysis ; genetic diagnosis ; genetic mutations ; immunofluorescence ; immunohistochemistry ; muscle histopathology ; muscular collagenopathy ; myopathie de Bethlem ; sequencing ; somatic mosaicism ; Ullrich congenital muscular dystrophy |
Keywords: | Bethlem myopathy;COL6A1;COL6A2;COL6A3;Ullrich congenital muscular dystrophy;collagen VI;mosaicism; |
Pubmed / DOI : | DOI : 10.1111/cge.13230 / Pubmed : 29419890 |
N° Profil MNM : | 2018022 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29419890 |