De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins

"Core-rod myopathy" is a rare congenital myopathy characterized by the presence of "cores" and "rods" in distinct locations in the same or different muscle fibres. This association is linked currently to mutations in RYR1, NEB and ACTA1 genes. We report identical twins...

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Veröffentlicht in:	European Journal of Medical Genetics 2011, Vol.54 (1), p.29-33
Hauptverfasser:	Hernandez-Lain, Aurelio, Husson, Isabelle, Monnier, Nicole, Farnoux, Caroline, Brochier, Guy, Lacène, Emmanuelle, Beuvin, Maud, Viou, Mait, Manéré, Linda, Claeys, Kristl, Fardeau, Michel, Lunardi, Joël, Voit, Thomas, Romero, Norma Beatriz
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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