Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.
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DOI: 10.1093/hmg/ddz025
Abstract: Here we characterized a mouse model knocked-in for a frameshift mutation in RYR1 exon 36 (p.Gln1970fsX16) that is isogenic to that identified in one parent of a severely affected patient with recessively inherited multiminicore disease.… read more here.
Keywords: reduction; muscle; ryr1 protein; ryr1 ... See more keywords