Congenital muscular dystrophy (disorder)
Semantic Scholar uses AI to extract papers important to this topic.
Autophagy is crucial in the turnover of cell components, and clearance of damaged organelles by the autophagic-lysosomal pathway… (More)
To describe a new entity of congenital muscular dystrophies caused by de novo LMNA mutations.
We aimed to determine the frequency of all known forms of congenital muscular dystrophy (CMD) in a large Australasian… (More)
Ullrich congenital muscular dystrophy is a severe genetically and clinically heterogeneous muscle disorder linked to collagen VI… (More)
Fukuyama congenital muscular dystrophy (FCMD), muscle–eye–brain disease (MEB), and Walker–Warburg syndrome are congenital… (More)
Muscle–eye–brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD) are congenital muscular dystrophies with… (More)
- Human molecular genetics
The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic… (More)
One form of congenital muscular dystrophy, rigid spine syndrome (MIM 602771), is a rare neuromuscular disorder characterized by… (More)
- The Journal of cell biology
Genetic defects in a number of components of the dystrophin-glycoprotein complex (DGC) lead to distinct forms of muscular… (More)
Congenital muscular dystrophy is one of the most frequent and severe childhood muscular dystrophies. Several forms of this… (More)