title: Congenital myotonic dystrophy with asymptomatic mother.
abstract: Myotonic dystrophy is an autosomal dominant neuromuscular disorder characterised by extreme pleiotropism and variability in disease expression. A congenital form is rare and is observed in infants born to symptomatic mothers with multisystem involvement. We report a case of a neonate with congenital myotonic dystrophy born to an asymptomatic mother.
authors.affiliation: Department of Neonatology, Lakshmi Hospital, Cochin, Kerala, India. anasan4@gmail.com
authors.forename: K M
authors.initials: KM
authors.lastname: Anand
authors.forename: V M
authors.initials: VM
authors.lastname: Biradar
authors.forename: J N
authors.initials: JN
authors.lastname: Panicker
authors.forename: Sheela
authors.initials: S
authors.lastname: Nampoothiri
mesh_terms: D015139:Blotting, Southern; D004576:Electromyography; D005220:Fathers; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D009035:Mothers; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics*