title: Myostatin mutation associated with gross muscle hypertrophy in a child.
authors.affiliation: Department of Neuropediatrics, Charité, University Medical Center Berlin, Berlin, Germany. markus.schuelke@charite.de
authors.forename: Markus
authors.initials: M
authors.lastname: Schuelke
authors.forename: Kathryn R
authors.initials: KR
authors.lastname: Wagner
authors.forename: Leslie E
authors.initials: LE
authors.lastname: Stolz
authors.forename: Christoph
authors.initials: C
authors.lastname: Hübner
authors.forename: Thomas
authors.initials: T
authors.lastname: Riebel
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Kömen
authors.forename: Thomas
authors.initials: T
authors.lastname: Braun
authors.forename: James F
authors.initials: JF
authors.lastname: Tobin
authors.forename: Se-Jin
authors.initials: SJ
authors.lastname: Lee
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D006984:Hypertrophy / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics; D009154:Mutation; D055435:Myostatin; D010375:Pedigree; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics*; D014463:Ultrasonography
chemical_list: C525911:MSTN protein, human; D055435:Myostatin; D012333:RNA, Messenger; D016212:Transforming Growth Factor beta