title: [Congenital muscular dystrophies in children].
abstract: 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 recessive autosomal inheritance. The initial manifestations very often begin in infancy or in the neonatal period. There are clinical suspicions of the existence of hypotonia and paresis, and they are characterised by a dystrophic pattern in the muscular biopsy (muscle replaced by fibroadipose tissue, with necrosis and cell regeneration). Advances in the understanding of the molecular pathogenesis of CMD have made it possible to make further progress in the classification of the different subtypes. The aim of this review is to comment on the advances made in recent years as regards the classification of CMD in terms of genetics, the proteins involved and their clinical presentation.
authors.affiliation: Centro Hospitalario Pereira Rossell, Montevideo, Uruguay.
authors.forename: Cristina
authors.initials: C
authors.lastname: Scavone-Mauro
authors.forename: Graciela
authors.initials: G
authors.lastname: Barros
mesh_terms: D002648:Child; D024142:Collagen Type VI / Q000172:deficiency / Q000235:genetics; D049030:Dystroglycans / Q000172:deficiency / Q000235:genetics; D005838:Genotype; D006801:Humans; D034904:Lamin Type A / Q000172:deficiency / Q000235:genetics; D007797:Laminin / Q000172:deficiency / Q000235:genetics; D009124:Muscle Proteins / Q000172:deficiency / Q000235:genetics; D009136:Muscular Dystrophies / Q000145:classification / Q000151:congenital* / Q000235:genetics / Q000628:therapy; D051140:Selenoproteins / Q000172:deficiency / Q000235:genetics
chemical_list: D024142:Collagen Type VI; C483081:DAG1 protein, human; C494847:LMNA protein, human; D034904:Lamin Type A; D007797:Laminin; D009124:Muscle Proteins; C435489:SELENON protein, human; D051140:Selenoproteins; C102645:laminin alpha 2; D049030:Dystroglycans