Neuromuscular disorders in childhood.
The understanding of the molecular genetics of inherited neuromuscular disorders has unfolded rapidly in recent years. Identification of the genetic defects involved has enhanced diagnosis, prognosis, carrier detection, and prenatal diagnosis and has provided a basis for rational treatment strategies. This review provides an update on the most common neuromuscular disorders that present in childhood, eg, spinal muscular atrophy, muscular dystrophies, and myotonic disorders, and includes information on molecular genetics, pathogenesis, natural history, and experimental therapeutic strategies.
British Columbia's Children's Hospital, Vancouver, Canada.
E H
EH
Roland
D002648:Child; D006801:Humans; D009468:Neuromuscular Diseases / Q000235:genetics*