Login / Signup

Muscle magnetic resonance imaging involvement patterns in nemaline myopathies.

Luke Daniel PerryGeorgia StimpsonLeeha SinghJasper M MorrowSachit ShahGiovanni BaranelloFrancesco MuntoniAnna Sarkozy
Published 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.
Keyphrases
  • magnetic resonance imaging
  • photodynamic therapy
  • skeletal muscle
  • contrast enhanced
  • light emitting
  • genome wide
  • electronic health record
  • diffusion weighted imaging
  • big data
  • machine learning
  • dna methylation