Myostatin mutation associated with gross muscle hypertrophy in a child.
Schuelke
Markus
M
Department of Neuropediatrics, Charité, University Medical Center Berlin, Berlin, Germany. markus.schuelke@charite.de
Wagner
Kathryn R
KR
Stolz
Leslie E
LE
Hübner
Christoph
C
Riebel
Thomas
T
Kömen
Wolfgang
W
Braun
Thomas
T
Tobin
James F
JF
Lee
Se-Jin
SJ
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
C525911:MSTN protein, human; D055435:Myostatin; D012333:RNA, Messenger; D016212:Transforming Growth Factor beta