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Chen, Lei; Lin, Hui-Xia; Yang, Xin-Xia; Chen, Dian-Fu; Dong, Hai-Lin; Yu, Hao; Liu, Gong-Lu; Wu, Zhi-Ying
Neuromuscular disorders : NMD, 20/May , Volume: 31, Issue: 5Journal Article
•We reported two novel mutations in two Chinese family with RBM.•By reviewing, we found that the most frequent pathogenic variants were identified in H123 residue (23.08%), followed by C153 residue (20.51%) and C150 residue (15.38%).•Our results indicated that familial female RBM patients exhibited asymmetric benign muscle involvements instead of a classic phenotype with early onset, symmetric and progressive generalized muscle weakness. Reducing body myopathy (RBM) is a rare myopathy characterized by reducing bodies (RBs) in morphological presentation. The clinical manifestations of RBM present a wide clinical spectrum, varying from infantile lethal form through childhood and adult benign forms. FHL1 gene is the causative gene of RBM. To date, only 6 Chinese RBM patients have been reported. Here, we reported the clinical presentations and genetic findings of 3 Chinese RBM patients from two families. Two novel pathogenic variants, c.395G>A and c.401_402insGAC, were identified by whole exome sequencing. Furthermore, by reviewing previous studies, we revealed that most RBM patients manifested with an early onset, symmetric, progressive limb-girdle and axial muscle weakness with joint contractures, rigid spine or scoliosis except familial female patients who exhibited asymmetric benign muscle involvements. Our results provide insightful information to help better diagnose and understand the disease.
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