Increasing involvement of capn1 variants in spastic ataxias and phenotype-genotype correlations

HIGHLIGHTS

• who: Jean-Loup Méreaux from the (UNIVERSITY) have published the research: Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations, in the Journal: (JOURNAL)
• what: The authors report the largest published series of 21 novel patients with nine new CAPN1 disease-causing variants and their clinical characteristics from two European university hospitals (Paris and Stockholm).

SUMMARY

The search was done in PubMed with ‘CAPN1' as the search term, and the papers reporting a description of cases harboring variants in CAPN1 were kept for the review. The authors . . .

 



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