학술논문
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects
Document Type
Article
Author
Polavarapu, Kiran; O'Neil, Daniel; Thompson, Rachel; Spendiff, Sally; Nandeesh, Bevinahalli; Vengalil, Seena; Huddar, Akshata; Baskar, Dipti; Arunachal, Gautham; Kotambail, Ananthapadmanabha; Bhatia, Saloni; Tumulu, Seetam Kumar; Matalonga, Leslie; Töpf, Ana; Laurie, Steven; Zeldin, Joshua; Nashi, Saraswati; Unnikrishnan, Gopikrishnan; Nalini, Atchayaram; Lochmüller, Hanns
Source
In Neuromuscular Disorders June 2024 39:10-18
Subject
Language
ISSN
0960-8966