NeuroscienceActa NeuropathologicaPeer-reviewed
Distinct chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4
Michio Inoue, S. Noguchi, Yukiko Inoue…·Ichizo Nishino
The paper identifies a DNAJB4 variant causing chaperonopathy in skeletal muscle, leading to muscle weakness and specific pathological features in type 1 fibers.
18 citations