Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.
Polavarapu K, O'Neil D, Thompson R, Spendiff S, Nandeesh B, Vengalil S, Huddar A, Baskar D, Arunachal G, Kotambail A, Bhatia S, Tumulu SK, Matalonga L, Töpf A, Laurie S, Zeldin J, Nashi S, Unnikrishnan G, Nalini A, Lochmüller H.
Polavarapu K, et al.
Neuromuscul Disord. 2024 Mar 22;39:10-18. doi: 10.1016/j.nmd.2024.03.011. Online ahead of print.
Neuromuscul Disord. 2024.
PMID: 38669730