Clinical and genetic characteristics of Chinese patients with reducing body myopathy

The human four and a half LIM domain 1 (FHL1) gene is located on Xq26.3 and encodes a 32kDa protein characterized by four and a half LIM domain structure [1]. The LIM domain is a highly conserved cysteine-rich tandem-zinc finger containing highly conserved cysteine and histidine residues to coordinate the binding to zinc ions, which is essential to stabilize the structure [2]. In addition to the full length FHL1 (FHL1A), there are two additional FHL1 gene products FHL1B and FHL1C derived from alternative splicing which contain less LIM domain structure [3-5].

Source: Neuromuscular Disorders - February 11, 2021 Category: Neurology Authors: Lei Chen, Hui-Xia Lin, Xin-Xia Yang, Dian-Fu Chen, Hai-Lin Dong, Hao Yu, Gong-Lu Liu, Zhi-Ying Wu Source Type: research