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KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.

Bianca BuchignaniGemma MarinellaRosa PasquarielloGiada SgherriSilvia FrosiniFilippo Maria SantorelliAlessandro OrsiniRoberta BattiniGuja Astrea
Published in: Genes (2024)
Due to its clinical and genotype homogeneity, KLHL40-related myopathy may be a condition that would greatly benefit from the development of new gene therapies; muscle MRI could be a good biomarker to monitor disease progression.
Keyphrases
  • case report
  • late onset
  • skeletal muscle
  • genome wide
  • contrast enhanced
  • copy number
  • muscular dystrophy
  • computed tomography
  • magnetic resonance
  • dna methylation
  • early onset
  • transcription factor