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Toe walking: A regional analysis of TTN variants between c.10,000 and c.99,999 in a cohort of children.

PubMed / Glob Med Genet · 2026-08-01 · By Pomarino D, Sidi Athmane A, Fregien B, et al. · Global medical genetics

A study published in Global Medical Genetics examined TTN gene variants in the c.10,000–c.99,999 region among children who present with toe walking, conducting a regional genetic analysis of this cohort. TTN encodes titin, a large structural protein involved in muscle function, and its variants may contribute to idiopathic toe walking in pediatric patients. Findings from this research may help clinicians and physical therapists better understand the underlying genetic contributors to toe walking, a condition commonly encountered in pediatric PT practice.

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