[Two cases of congenital myotonic dystrophy type 1 caused by DMPK gene variants]
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Patient 1 was a male neonate who, at 3 hours of life, presented with respiratory distress, hypotonia, and ventilator dependence. Genetic testing revealed a DMPK gene CTG repeat expansion (13/>83). Patient 2 was a male neonate who presented at 2 days of life af... ...
