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Article

MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin.

EMBO molecular medicine - 6 Nov 2020

Whittle Julia, Antunes Lilian, Harris Mya, Upshaw Zachary, Sepich Diane S, Johnson Aaron N, Mokalled Mayssa, Solnica-Krezel Lilianna, Dobbs Matthew B, Gurnett Christina A

Abstract excerpt

Distal arthrogryposis (DA) is group of syndromes characterized by congenital joint contractures. Treatment development is hindered by the lack of vertebrate models. Here, we describe a zebrafish model in which a common MYH3 missense mutation (R672H) was introduced into the orthologous zebrafish gene smyhc1 (slow myosin heavy chain 1) (R673H). We simultaneously created a smyhc1 null allele (smyhc1- ), which...

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Identifiers

PMID: 33016623
DOI: 10.15252/emmm.202012356
PMCID: PMC7645368

Genes

MYH3

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