Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.

Celine ChiuAlma KüchlerChristel DepienneCorinna PreußeAdela Della MarinaAndre ReisFrank J KaiserKay NolteAndreas HentschelUlrike Schara-SchmidtHeike KölbelAndreas Roos
Published in: Skeletal muscle (2024)
Our combined findings, for the first time, unveil myopathological changes as phenotypical association of Pitt-Hopkins syndrome and thus expand the current clinical knowledge of the disease as well as support data obtained on skeletal muscle of a mouse model.