title: Congenital muscular dystrophy.
authors.affiliation: Dubowitz Neuromuscular Centre, Hammersmith Hospital, London, England.
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.forename: Cheryl
authors.initials: C
authors.lastname: Longman
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D018797:Cell Cycle Proteins; D002648:Child; D024142:Collagen Type VI / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D004502:Education, Medical, Continuing; D006801:Humans; D007797:Laminin / Q000172:deficiency / Q000235:genetics; D008565:Membrane Proteins; D009124:Muscle Proteins / Q000235:genetics; D009136:Muscular Dystrophies / Q000145:classification* / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010372:Pediatrics / Q000193:education; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics; D051140:Selenoproteins / Q000235:genetics; D015534:Trans-Activators / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C504344:COL6A2 protein, human; D018797:Cell Cycle Proteins; D024142:Collagen Type VI; D004268:DNA-Binding Proteins; C113587:FKTN protein, human; D007797:Laminin; C413163:MDC1 protein, human; D008565:Membrane Proteins; D009124:Muscle Proteins; D009687:Nuclear Proteins; D011506:Proteins; C435489:SELENON protein, human; D051140:Selenoproteins; D015534:Trans-Activators; C102645:laminin alpha 2; D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase; C443107:FKRP protein, human; D010430:Pentosyltransferases