Reducing body myopathy – A new pathogenic variant and literature review

Abstract Reducing body myopathy(RBM) is a rare disease marked by progressive muscle weakness caused by a mutation in FHL1 gene. We described a new pathogenic variant and contrasted it with 44 other cases identified in the literature. Male child presented at age 3 frequent falls and progressive muscular weakness. At age 8, he was wheelchair-bound and required ventilatory support. His mother and sister died due to the same problem. Creatine kinase was 428 IU/L ( G predominated in younger group and c.448T\u003eC in older one. Pathogenic variants positions seemed related to severe phenotype. Most wheelchair patients belonged to younger group. The data from this compilation and our case provided a general characterization spectrum and prognosis between two groups of age onset with RBM.