title: A common presentation of a rare genetic disorder clinically mimicking primary myopathy.
authors.affiliation: Department of Clinical Genetics, Sydney Children's Hospital Network (Westmead), Australia.
authors.forename: K H C
authors.initials: KH
authors.lastname: Wu
authors.forename: M R
authors.initials: MR
authors.lastname: Kohn
authors.forename: A
authors.initials: A
authors.lastname: Turner
authors.forename: D O
authors.initials: DO
authors.lastname: Sillence
mesh_terms: D000293:Adolescent; D001706:Biopsy; D003966:Camurati-Engelmann Syndrome / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging; D005260:Female; D006801:Humans; D008297:Male