New genes in neuromuscular diseases

DnaJ homolog, subfamily B, member 4 (DNAJB4) is a member of the heat shock protein 40 chaperone family, and it is highly expressed in striated muscles. Although DNAJB6 is known to cause LGMDD1, no human disease related to DNAJB4 has been reported so far. Here, we report one family including six affected individuals. The initial symptom was hand grip weakness from around 30 years of age, then they developed lower limb weakness from their 40 ’s. Muscle imaging showed a characteristic pattern of involvement with rectus femoris and hamstrings affected.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: M. Inoue, A. Iida, K. Watanabe, Y. Hosoi, H. Miyajima, S. Hayashi, Y. Inoue, T. Inoue, S. Noguchi, I. Nishino Source Type: research