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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, K.; O'Neil, D.; Thompson, R.; Spendiff, S.; Zeldin, J.; Lochmüller, H.; Nandeesh, B.; Vengalil, S.; Huddar, A.; Baskar, D.; Nashi, S.; Unnikrishnan, G.; Nalini, A.; Arunachal, G.; Kotambail, A.; Bhatia, S.; Tumulu, S.K.; Matalonga, L.; Laurie, S.; Töpf, A.
Source
In: Neuromuscular Disorders. (Neuromuscular Disorders, June 2024, 39:10-18)
Subject
Language
English
ISSN
18732364
09608966

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