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Article

Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.

Disease models & mechanisms - 1 May 2022

Espinosa Karla G, Geissah Salma, Groom Linda, Volpatti Jonathan, Scott Ian C, Dirksen Robert T, Zhao Mo, Dowling James J

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 constitutive Speg knockout mice....

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Identifiers

PMID: 35293586
DOI: 10.1242/dmm.049437
PMCID: PMC9118044

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