Neuromuscular Activation of Muscle in Children with the ZC4H2 Mutation

Awardee: Richard Lieber

Institution: Shirley Ryan AbilityLab

Grant Amount: $61,815.00

Funding Period: February 1, 2024 - January 31, 2025


Summary:

Our research will determine whether the weakness experienced by children with the ZC4H2 mutation is due to their inability to voluntarily recruit muscle groups or weakness in the muscle itself. This will be accomplished by measuring both mechanical and electrical activity of the major flexors and extensors in the body. In this way, we can focus development on therapies related to the actual functional problem in these children.

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The mitochondrial-related defects in WDR45-defective cells and how to reverse them