title: A case presenting with delayed motor milestones.
authors.affiliation: Dubowitz Neuromuscular Centre, Department of Pediatrics, Imperial College London, Hammersmith Hospital, Du Cane Road, London, UK. f.muntoni@imperial.ac.uk
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
authors.forename: Dimitrios I
authors.initials: DI
authors.lastname: Zafeiriou
authors.forename: Cecilia
authors.initials: C
authors.lastname: Jimenez
authors.forename: Arnold
authors.initials: A
authors.lastname: Reuser
authors.forename: Caroline
authors.initials: C
authors.lastname: Sewry
mesh_terms: D002658:Developmental Disabilities / Q000209:etiology*; D005260:Female; D005959:Glucosidases / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D007223:Infant; D018908:Muscle Weakness / Q000209:etiology*; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D020125:Mutation, Missense; D024744:Skeletal Muscle Myosins / Q000378:metabolism
chemical_list: D005959:Glucosidases; D024744:Skeletal Muscle Myosins