An atypical presentation of gene: a case report and review of the literature

HIGHLIGHTS

• who: TARDBP et al. from the EURO-NMD), Department of Neurology, Vall d'Hebron University Hospital, Passeig de la Vall d'Hebron have published the paper: An Atypical Presentation of Gene: A Case Report and Review of the Literature, in the Journal: Genes 2022, 13, 1483. of /2022/
• what: The authors report a patient with JALS and a pathogenic variant in the gene (c.1035C > G; p.Asn345Lys) previously reported only in adult-onset ALS and with an atypical phenotype of marked predominance.

SUMMARY

Tral with regard to jurisdictional Amyotrophic lateral . . .

 



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