| Autor: |
Hana Milena Fujimoto, Masanori Fujimoto, Takahiro Sugiura, Shigeharu Nakane, Yasuhiro Wakano, Emi Sato, Hironori Oshita, Yasuko Togawa, Mari Sugimoto, Takenori Kato, Kazushi Yasuda, Kanji Muramatsu, Shinji Saitoh |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2054-345X |
| DOI: |
10.1038/s41439-023-00253-w |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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