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Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia
Human Genome Variation ( IF 1.0 ) Pub Date : 2023-09-06 , DOI: 10.1038/s41439-023-00253-w Hana Milena Fujimoto 1 , Masanori Fujimoto 2 , Takahiro Sugiura 1 , Shigeharu Nakane 1 , Yasuhiro Wakano 1 , Emi Sato 2 , Hironori Oshita 1 , Yasuko Togawa 1 , Mari Sugimoto 1 , Takenori Kato 1 , Kazushi Yasuda 3 , Kanji Muramatsu 1 , Shinji Saitoh 2
中文翻译：
患有严重扩张型心肌病和相对轻度肌张力低下的新生儿的新 SPEG 变异
更新日期：2023-09-06
Human Genome Variation ( IF 1.0 ) Pub Date : 2023-09-06 , DOI: 10.1038/s41439-023-00253-w Hana Milena Fujimoto 1 , Masanori Fujimoto 2 , Takahiro Sugiura 1 , Shigeharu Nakane 1 , Yasuhiro Wakano 1 , Emi Sato 2 , Hironori Oshita 1 , Yasuko Togawa 1 , Mari Sugimoto 1 , Takenori Kato 1 , Kazushi Yasuda 3 , Kanji Muramatsu 1 , Shinji Saitoh 2
Affiliation
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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.
中文翻译：
患有严重扩张型心肌病和相对轻度肌张力低下的新生儿的新 SPEG 变异
据报道，横纹肌优先表达蛋白激酶( SPEG ) 变异会导致与心脏病相关的中心核肌病。骨骼肌症状和心脏症状的严重程度可能与变异的位置有关。在这里，我们报告了患有严重扩张型心肌病和相对轻度肌张力低下的新生儿的新型SPEG复合杂合病理变异。该报告扩展了SPEG变异患者的基因型-表型相关性。
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