Case report: a novel deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia

HIGHLIGHTS

• who: FARS and collaborators from the Federal University of Su00e3o Paulo, Brazil have published the paper: Case report: A novel deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia, in the Journal: (JOURNAL)
• what: The authors provide the first detailed molecular characterization of the intragenic deletion, identifying the molecular mechanism underlying the genomic rearrangement.

SUMMARY

Usually, the epileptic groups have a poorer prognosis, while SPG77 is associated with a less severe disease and prolonged survival (Shamseldin et_al, 2012; Yang et_al, 2016; Hotait et_al, 2020). The authors . . .

 



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