Congenital myotonic dystrophy with asymptomatic mother

Congenital myotonic dystrophy with asymptomatic mother

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...

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Veröffentlicht in:Indian pediatrics 2011-07, Vol.48 (7), p.565-567
Hauptverfasser: Anand, K M, Biradar, V M, Panicker, J N, Nampoothiri, Sheela
Format: Artikel
Sprache:eng
Schlagworte:
Blotting, Southern
Electromyography
Fathers
Female
Humans
Infant, Newborn
Infant, Premature
Male
Mothers
Myotonic Dystrophy - diagnosis
Myotonic Dystrophy - genetics
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Zusammenfassung: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.
ISSN:0974-7559