Muscle magnetic resonance imaging involvement patterns in nemaline myopathies.
Luke Daniel PerryGeorgia StimpsonLeeha SinghJasper M MorrowSachit ShahGiovanni BaranelloFrancesco MuntoniAnna SarkozyPublished in: Annals of clinical and translational neurology (2023)
This is the widest NM MRI data set described to date; we describe distinct muscle involvement patterns for NEB-NM, ACTA1-NM and TPM3-NM which may have utility as diagnostic and prognostic biomarkers and aid in genetic variant interpretation.