Key result
Loss of function mutations in the nuclear-encoded mitochondrial protein NNT are associated with left ventricular noncompaction, expanding the genetic spectrum of the disease.
Why the study?
Are loss-of-function mutations in NNT associated with left ventricular noncompaction?
Population
Multiple members from 5 families with left ventricular noncompaction, a larger LVNC cohort, and zebrafish…
Authors
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NNT testing does not yet alter LVNC panels; leaves open its role pending human validation.
Observational
Are loss-of-function mutations in NNT associated with left ventricular noncompaction?
Loss-of-function mutations in the nuclear-encoded mitochondrial protein NNT are newly implicated in the pathogenesis of left ventricular noncompaction.
Bainbridge et al. (2015) conducted an observational in Left ventricular noncompaction (LVNC). NNT mutations was evaluated on Identification of disease-causing variants. Loss of function mutations in the nuclear-encoded mitochondrial protein NNT are associated with left ventricular noncompaction, expanding the genetic spectrum of the disease.
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