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

Dudzik, Aleksandra; Nedza, Weronika; Końska, Katarzyna; Starzec, Katarzyna; Tomasik, Tomasz; Grudzień, Andrzej; Jagła, Mateusz; Durlak, Wojciech; Kwinta, Przemko

doi:10.1186/s43042-021-00140-5

Egyptian Journal of Medical Human Genetics

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Last updated: Fri, 26 Apr 2024 4:42:02 Z

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

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