title: A 35-week neonate with respiratory failure, hypotonia, and joint contractures.
authors.affiliation: Division of Adolescent/Young Adult Medicine, Children's Hospital, Boston, MA 02115, USA.
authors.forename: J A
authors.initials: JA
authors.lastname: Kahn
authors.forename: S
authors.initials: S
authors.lastname: Cataltepe
mesh_terms: D000328:Adult; D003286:Contracture / Q000209:etiology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000235:genetics; D007592:Joint Diseases / Q000209:etiology; D009030:Mosaicism; D009123:Muscle Hypotonia / Q000209:etiology*; D009223:Myotonic Dystrophy / Q000150:complications / Q000151:congenital* / Q000235:genetics; D012131:Respiratory Insufficiency / Q000209:etiology; D018911:Trinucleotide Repeats