Abstract

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.

Details

Title
Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia
Author
Fujimoto, Hana Milena 1 ; Fujimoto, Masanori 2 ; Sugiura, Takahiro 1 ; Nakane, Shigeharu 1 ; Wakano, Yasuhiro 1 ; Sato, Emi 2 ; Oshita, Hironori 1 ; Togawa, Yasuko 1 ; Sugimoto, Mari 1 ; Kato, Takenori 1 ; Yasuda, Kazushi 3 ; Muramatsu, Kanji 1 ; Saitoh, Shinji 2   VIAFID ORCID Logo 

1  Toyohashi Municipal Hospital, Department of Pediatrics, Toyohashi, Japan (GRID:grid.417241.5) (ISNI:0000 0004 1772 7556) 
2  Nagoya City University Graduate School of Medical Sciences, Department of Pediatrics and Neonatology, Nagoya, Japan (GRID:grid.260433.0) (ISNI:0000 0001 0728 1069) 
3  Aichi Children’s Health and Medical Center, Department of Cardiology, Obu, Japan (GRID:grid.417241.5) 
Pages
24
Publication year
2023
Publication date
2023
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-023-00253-w
ProQuest document ID
2861510311
Copyright
© The Author(s) 2023. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.