Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres

Elbaz, M; Ruiz, A; Eckhardt, J; Pelczar, P; Muntoni, F; Boncompagni, S; Treves, S; Elbaz, M; Ruiz, A; Eckhardt, J; Pelczar, P; Muntoni, F; Boncompagni, S; Treves, S; Zorzato, F; - view fewer (2019) Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres. Human Molecular Genetics 10.1093/hmg/ddz025 . (In press).

http://bit.ly/2GDxL7f