Article
The genetics of congenital myopathies.
Handbook of clinical neurology - 1 Jan 2018
Gonorazky Hernan D, Bönnemann Carsten G, Dowling James J
Abstract excerpt
Congenital myopathies are a clinically and genetically heterogeneous group of conditions that most commonly present at or around the time of birth with hypotonia, muscle weakness, and (often) respiratory distress. Historically, this group of disorders has been subclassified based on muscle histopathologic characteristics. There has been an explosion of gene discovery, and there are now at least 32 different...
Topics
- Humans
- Muscle Proteins
- Mutation
- Myopathies, Structural, Congenital
- Phenotype