Parisi L, Escher R. Myopathy, lactic acidosis and sideroblastic anemia syndrome 1 (MLASA1): clinical hallmarks in a large pedigree with a novel <i>PUS1</i&gt; R144Q mutation, remarkable response to somatropin, and review of the literature. Haematologica; https://doi.org/10.3324/haematol.2025.287393 [Early view].