Article
Congenital myopathies.
Handbook of clinical neurology - 1 Jan 2013
Romero Norma Beatriz, Clarke Nigel F
Abstract excerpt
Congenital myopathies are a heterogeneous group of inherited muscle disorders, characterized by the predominance of particular histopathological features on muscle biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor development are common in most forms. As a result, the diagnosis...
Topics
- Biopsy
- Humans
- Muscle, Skeletal
- Muscular Diseases
- Mutation