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 |
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Hauptverfasser: | , , , , , |
Format: | Artikel |
Sprache: | eng |
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Online-Zugang: | Volltext |
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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”. |
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ISSN: | 1344-6223 1873-4162 |
DOI: | 10.1016/j.legalmed.2014.06.008 |