HIGHLIGHTS
- What: The authors reported for the first time that patients with DDX53 defects manifest with HSP-like disorders. The study reported a unique case of a patient with a DDX53 deletion_mutation who presented with lower extremity spasticity, intellectual disability, white matter lesions, abnormal lipid metabolism, progressive walking impairment, and visual impairment.
- Who: Posted Date November et al. from the Wenzhou Medical University School of Laboratory Medicine and Life Sciences https://orcidorg/00090003-1729, have published the research: Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder, in the Journal: (JOURNAL)
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