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

Bianca Buchignani Gemma MarinellaRosa PasquarielloGiada Sgherri Silvia 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
magnetic resonance imaging
skeletal muscle
contrast enhanced
genome wide
computed tomography
magnetic resonance
drug induced
myasthenia gravis