CONGENITAL MYOPATHIES: EP.52 Characterization of a novel mouse model carrying the homozygous p.F4976L RYR1 mutation, identified in a severely affected child

Abstract

Mutations in RYR1 are associated with a range of neuromuscular disorders including core myopathies, congenital fiber type disproportion and centronuclear myopathy. Here we present a new mouse model we created using the CRISPR/CAS9 technique, knocked-in for a homozygous RYR1 mutation identified in a severely affected child. The child was born pre-term, presented feeding difficulties and very limited limb movement. Genotypic investigation revealed that he carried the homozygous c.14928C>G RYR1 mutation in exon 104, resulting in the substitution of p.F4976L.