title: Congenital muscular dystrophy: molecular and cellular aspects.
abstract: The congenital muscular dystrophies are a clinically and genetically heterogeneous group of neuromuscular disorders. Each form has a characteristic phenotype, but there is overlap between some entities and their classification is based on a combination of clinical features and the primary or secondary protein defect. Recent studies have identified the genetic basis of a number of congenital muscular dystrophies (11 genes in total) and have recognised a novel pathological mechanism that highlights the importance of the correct posttranslational processing of proteins, in particular alpha-dystroglycan. Diagnosis of these conditions has been aided by the availability of specific antibodies for each protein and a better understanding of the protein changes that accompany each condition. In this review we present the major molecular, clinical and diagnostic aspects of each group of congenital muscular dystrophy with an emphasis in the more recent developments.
authors.affiliation: Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, United Kingdom. c.jimenez@imperial.ac.uk
authors.forename: C
authors.initials: C
authors.lastname: Jimenez-Mallebrera
authors.forename: S C
authors.initials: SC
authors.lastname: Brown
authors.forename: C A
authors.initials: CA
authors.lastname: Sewry
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D015703:Antigens, CD / Q000378:metabolism; D049030:Dystroglycans / Q000378:metabolism*; D006801:Humans; D039001:Integrin alpha Chains / Q000378:metabolism; D007797:Laminin / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D011499:Protein Processing, Post-Translational
chemical_list: D015703:Antigens, CD; D039001:Integrin alpha Chains; D007797:Laminin; C085725:integrin alpha7; C102645:laminin alpha 2; D049030:Dystroglycans