Bilateral subdural hygromas and cephalhaematomas in male twins with severe myotubular myopathy caused by a Novel c.431delT (p.Leu144fs) mutation in MTM1 gene.
Chaudhari
Tejasvi
T
Department of Neonatology, Canberra Hospital, Woden, Canberra, Australia. tejasvi.chaudhari@gmail.com
Todd
David A
DA
Kent
Alison L
AL
Dopita
Belinda
B
Hallam
Lavinia
L
Freckmann
Mary-Louise
ML
Johnston
Heather M
HM
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
D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin