Hypertrophy of lymphoid organs is a possible phenotypic characteristic of R420W mutation of the cardiac ryanodine receptor gene: A study using a knock-in mouse model

Highlights • Mice with R420W mutation of RyR2 exhibit hypertrophy of lymphoid organs. • Phenotypic changes may imply existence of hereditary arrhythmia diseases. • Phenotypic changes may suggest the presence of the R420W mutation. • Sudden unexplained death cases with mutation may show such findings...

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Veröffentlicht in:Legal medicine (Tokyo, Japan) Japan), 2014-11, Vol.16 (6), p.326-332
Hauptverfasser: Nishio, Hajime, Okudaira, Noriyuki, Matsushita, Kazufumi, Yoshimoto, Tomohiro, Sato, Takako, Suzuki, Koichi
Format: Artikel
Sprache:eng
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Zusammenfassung:Highlights • Mice with R420W mutation of RyR2 exhibit hypertrophy of lymphoid organs. • Phenotypic changes may imply existence of hereditary arrhythmia diseases. • Phenotypic changes may suggest the presence of the R420W mutation. • Sudden unexplained death cases with mutation may show such findings at autopsy. • Mouse model resembles the previously termed “status thymicolymphaticus”.
ISSN:1344-6223
1873-4162
DOI:10.1016/j.legalmed.2014.06.008