title: Bilateral subdural hygromas and cephalhaematomas in male twins with severe myotubular myopathy caused by a Novel c.431delT (p.Leu144fs) mutation in MTM1 gene.
authors.affiliation: Department of Neonatology, Canberra Hospital, Woden, Canberra, Australia. tejasvi.chaudhari@gmail.com
authors.forename: Tejasvi
authors.initials: T
authors.lastname: Chaudhari
authors.forename: David A
authors.initials: DA
authors.lastname: Todd
authors.forename: Alison L
authors.initials: AL
authors.lastname: Kent
authors.forename: Belinda
authors.initials: B
authors.lastname: Dopita
authors.forename: Lavinia
authors.initials: L
authors.lastname: Hallam
authors.forename: Mary-Louise
authors.initials: ML
authors.lastname: Freckmann
authors.forename: Heather M
authors.initials: HM
authors.lastname: Johnston
mesh_terms: D002543:Cerebral Hemorrhage / Q000151:congenital; D016368:Frameshift Mutation; D017353:Gene Deletion; D006406:Hematoma / Q000151:congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics*; D013353:Subdural Effusion / Q000235:genetics*; D014427:Twins
chemical_list: D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin