Congenital myotonic dystrophy: An overlooked diagnosis not amenable to detection by sequencing
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DOI: 10.1002/pd.6105
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. read more here.
Keywords: myotonic dystrophy; dystrophy overlooked; congenital myotonic; overlooked diagnosis ... See more keywords