Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects
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L. Matalonga | A. Töpf | K. Polavarapu | S. Spendiff | B. Nandeesh | S. Laurie | G. Unnikrishnan | S. Vengalil | S. Nashi | Akshata Huddar | G. Arunachal | Ananthapadmanabha Kotambail | Hanns Lochmüller | A. Nalini | Dipti Baskar | Daniel O’Neil | Rachel Thompson | Saloni Bhatia | Seetam Kumar Tumulu | J. Zeldin