Two cases of congenital myotonic dystrophy type 1 caused by DMPK gene variants

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 after resuscitation for perinatal asphyxia...

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Prif Awduron:	WANG Xiao-Hong, WANG Chen-Hong, XU Yan-Ping, MA Xiao-Lu, SHI Li-Ping, CHEN Zheng, MAO Shan-Shan
Fformat:	Artigo
Iaith:	Chinês
Cyhoeddwyd:	Hunan Xiangya Medical Periodical Press Co., Ltd. 2026-04-01
Cyfres:	中国当代儿科杂志
Pynciau:	congenital myotonic dystrophy type 1 dmpk gene diaphragmatic eventration hypotonia infant
Mynediad Ar-lein:	https://www.zgddek.com/CN/10.7499/j.issn.1008-8830.2508148
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!