In Duchenne muscular dystrophy (MD), unless a sibling has been previously affected to warrant a high index of suspicion, no abnormality is noted in the patient at birth, and manifestations of the muscle weakness do not begin until the child begins to walk. Three major time points for patients...
Muscular dystrophy (MD) is a collective group of inherited noninflammatory but progressive muscle disorders without a central or peripheral nerve abnormality. The disease affects the muscles with definite fiber degeneration but without evidence of morphologic aberrations. Advances in molecular biology techniq...
et al. Novel CHKB mutation expands the megaconial muscular dystrophy phenotype. Muscle Nerve 51, 140–143 (2014). 12 Aoyama, C., Liao, H. & Ishidate, K. Structure and function of choline kinase isoforms in mammalian cells. Prog. Lipid Res. 43, 266–281 (2004). 13 Mitsuhashi, S.,...
The Muscular Dystrophy Association (USA) supports monoclonal antibody development in the laboratory of G. E. Morris, whom we thank for providing the MANDAG antibody against β-dystroglycan. This work was supported by grants from the Else Kröner-Fresenius Foundation (2015/180 and 2018/T20 to C...