Toe walking in children with variants in myopathy-associated genes: A retrospective descriptive cohort study

Background

Tip-toe walking may occur in children carrying variants associated with, neuromuscular disorders, but characteristics of children carrying variants in selected, muscle-related genes remain insufficiently characterized. We characterized children, with tip-toe walking carrying variants in CAV3, CLCN1, COL6A2, or COL6A3.