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Congenital myotonic dystrophy: An overlooked diagnosis not amenable to detection by sequencing

To increase the clinical awareness of the need for genetic evaluation for congenital myotonic dystrophy (CDM1) in cases of fetal akinesia sequence and idiopathic polyhydramnios. Click to show full abstract

To increase the clinical awareness of the need for genetic evaluation for congenital myotonic dystrophy (CDM1) in cases of fetal akinesia sequence and idiopathic polyhydramnios.

Keywords: myotonic dystrophy; dystrophy overlooked; congenital myotonic; overlooked diagnosis

Journal Title: Prenatal Diagnosis
Year Published: 2022

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