Article
[Congenital muscular dystrophies in children].
Revista de neurologia - 6 Sept 2013
Scavone-Mauro Cristina, Barros Graciela
Abstract excerpt
From the clinical and genetic point of view, congenital muscular dystrophies (CMD) are a heterogenic group of diseases within neuromuscular pathologies. The best known forms are: merosin deficiency CMD, collagen VI deficiency CMD, LMNA-related CMD, selenoprotein-related CMD (SEPN1) and alpha-dystroglycan-related CMD. They present with a broad spectrum of clinical phenotypes. Most of them are transmitted by...
Topics
- Child
- Collagen Type VI
- Dystroglycans
- Genotype
- Humans
- Lamin Type A
- Laminin
- Muscle Proteins
- Muscular Dystrophies
- Selenoproteins