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Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring.

Abstract : We identified a heterozygous p.Arg2401His mutation of RYR2 by sequencing the DNA of a 7-year-old girl who was referred for catecholaminergic polymorphic ventricular tachycardia (CPVT). Using high-resolution melting assay, we have demonstrated a mosaicism for this mutation in her asymptomatic mother which illustrates the benefit of extensive genetic analysis in CPVT, in particular regarding genetic counselling.
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https://www.hal.inserm.fr/inserm-00639628
Contributor : Nathalie Roux-Buisson <>
Submitted on : Wednesday, November 9, 2011 - 4:14:01 PM
Last modification on : Wednesday, August 19, 2020 - 11:16:36 AM
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Nathalie Roux-Buisson, Grégory Egéa, Isabelle Denjoy, Pascale Guicheney, Joel Lunardi. Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring.. EP-Europace, Oxford University Press (OUP): Policy B, 2011, 13 (1), pp.130-2. ⟨10.1093/europace/euq331⟩. ⟨inserm-00639628⟩

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