A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report

被引：0
作者：
Aleksandra Dudzik
Weronika Nedza
Katarzyna Końska
Katarzyna Starzec
Tomasz Tomasik
Andrzej Grudzień
Mateusz Jagła
Wojciech Durlak
Przemko Kwinta
机构：
[1] Jagiellonian University Medical College,Department of Pediatrics
[2] Jagiellonian University Medical College,Students’ Scientific Association at Department of Pediatrics
[3] Jagiellonian University Medical College,Department of Medical Genetics, Chair of Pediatrics
来源：
Egyptian Journal of Medical Human Genetics | / 22卷
关键词：
X-linked myotubular myopathy; Centronuclear myopathy; Hypotonia; Respiratory failure; Feeding disorder;
D O I：
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