Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia

Striated muscle preferentially expressed protein kinase (SPEG) variants have been reported to cause centronuclear myopathy associated with cardiac diseases. The severity of skeletal muscle symptoms and cardiac symptoms are presumably related to the location of the variant. Here, we report novel SPEG...

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Detalles Bibliográficos
Autores principales: Fujimoto, Hana Milena, Fujimoto, Masanori, Sugiura, Takahiro, Nakane, Shigeharu, Wakano, Yasuhiro, Sato, Emi, Oshita, Hironori, Togawa, Yasuko, Sugimoto, Mari, Kato, Takenori, Yasuda, Kazushi, Muramatsu, Kanji, Saitoh, Shinji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10482934/
https://www.ncbi.nlm.nih.gov/pubmed/37673875
http://dx.doi.org/10.1038/s41439-023-00253-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10482934/
https://www.ncbi.nlm.nih.gov/pubmed/37673875
http://dx.doi.org/10.1038/s41439-023-00253-w

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