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A novel zebrafish model of <i>SPEG</i> -related centronuclear myopathy (CNM): characterization and comparison with other CNM model zebrafish

2021-12-23

Abstract excerpt

Centronuclear myopathy (CNM) is a congenital neuromuscular disorder caused by pathogenic variation in genes associated with membrane trafficking and excitation-contraction coupling (ECC). Bi-allelic autosomal recessive mutations in striated muscle enriched protein kinase ( SPEG ) account for a subset of CNM patients. Previous research has been limited by the perinatal lethality of Speg knockout mice. Thus, the p...

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Literature Corpus work
1b0c9cb9-3c56-58ee-ac7c-c0ec74fea162
DOI
10.1101/2021.12.22.473918
Open publication

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A novel zebrafish model of <i>SPEG</i> -related centronuclear myopathy (CNM): characterization and comparison with other CNM model zebrafishDOI 10.1101/2021.12.22.473918
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