The authors note many patients don't present typical manifestations, especially early on, but don't explain why phenotypic expression varies so dramatically. This knowledge gap hampers early diagnosis and appropriate screening strategies for at-risk individuals. Gap type: unexplained_observation Source paper: Case Report: Multiple types of arrhythmias in a late-confirmed Danon disease. (2024, Frontiers in cardiovascular medicine, PMID:38606381)
Landscape Summary: Why do some Danon disease patients present with atypical phenotypes lacking the classic triad? is a 0.7 priority gap in neurodegeneration. It has 0 linked hypotheses with average composite score 0.000. Status: open.
Colonna, Sevlever, et al. (TREM2 biology)
Why do some Danon disease patients present with atypical phenotypes lacking the classic triad? — INVOKE-2 (completed)
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