Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review

Conclusion
Common phenotypic expressions include delayed motor development with neuromuscular weakness, scoliosis and multiple fractures. The data presented here broaden the phenotypic spectrum establishing similar patterns of neuromuscular presentation with a presumed diagnosis of ‘myopathy’.

Source: Journal of Medical Genetics - July 21, 2022 Category: Genetics & Stem Cells Authors: Durkin, A., DeVile, C., Arundel, P., Bull, M., Walsh, J., Bishop, N. J., Hupin, E., Parekh, S., Nadarajah, R., Offiah, A. C., Calder, A., Brock, J., Baker, D., Balasubramanian, M. Tags: Phenotypes Source Type: research