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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| Principais autores: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Chinês |
| Publicado: |
Hunan Xiangya Medical Periodical Press Co., Ltd.
2026-04-01
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| Series: | 中国当代儿科杂志 |
| Assuntos: | |
| Acceso en liña: | https://www.zgddek.com/CN/10.7499/j.issn.1008-8830.2508148 |
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