Article
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
Annals of neurology - 1 Nov 2010
Wilmshurst J M, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller C R, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling J J, Al-Sarraj S, Treves S, Abbs S, Manzur A Y, Sewry C A, Muntoni F, Jungbluth Heinz
Abstract excerpt
OBJECTIVE: Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy. CNM has been associated with mutations in MTM1, DNM2, and BIN1 but many cases remain genetically unresolved. RYR1 encodes the principal sarcoplasmic reticulum calcium release channel and has been implicated in various congenital myopathies. We investigated whether RYR1 mutations...
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