Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.
Circulation. Genomic And Precision Medicine
Yamamoto, Tetsushi T; Awano, Hiroyuki H; Zhang, Zhujun Z; Sakuma, Mio M; Kitaaki, Shoko S; Matsumoto, Masaaki M; Nagai, Masashi M; Sato, Itsuko I; Imanishi, Takamitsu T; Hayashi, Nobuhide N; Matsuo, Masafumi M; Iijima, Kazumoto K; Saegusa, Jun J
A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples.
Plos One
Sardone, Valentina V; Ellis, Matthew M; Torelli, Silvia S; Feng, Lucy L; Chambers, Darren D; Eastwood, Deborah D; Sewry, Caroline C; Phadke, Rahul R; Morgan, Jennifer E JE; Muntoni, Francesco F
Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.
Plos One
Janghra, Narinder N; Morgan, Jennifer E JE; Sewry, Caroline A CA; Wilson, Francis X FX; Davies, Kay E KE; Muntoni, Francesco F; Tinsley, Jonathon J
Publication Date: 2016
Variant appearance in text: DMD: 9851G>A; Trp3284X