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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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
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author 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
author_facet 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
author_sort Fujimoto, Hana Milena
collection PubMed
description 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 compound heterozygous pathological variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia. This report expands the genotype-phenotype correlations of patients with SPEG variants.
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spelling pubmed-104829342023-09-08 Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia 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 Hum Genome Var Data Report 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 compound heterozygous pathological variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia. This report expands the genotype-phenotype correlations of patients with SPEG variants. Nature Publishing Group UK 2023-09-06 /pmc/articles/PMC10482934/ /pubmed/37673875 http://dx.doi.org/10.1038/s41439-023-00253-w Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
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
Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia
title Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia
title_full Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia
title_fullStr Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia
title_full_unstemmed Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia
title_short Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia
title_sort novel speg variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia
topic Data Report
url 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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