Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
Distelmaier F, Sezer A, Helm C, Waldmüller S, Seibt A, Gangfuß A, Kölbel H, Schara-Schmidt U, Yuksel D, Talim B, Mayatepek E, Nikolin S, Weis J, Roos A, Haack TB.
Distelmaier F, et al. Among authors: helm c.
Brain. 2024 Apr 18:awae099. doi: 10.1093/brain/awae099. Online ahead of print.
Brain. 2024.
PMID: 38637313
No abstract available.