Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report

BACKGROUND: Spinocerebellar ataxia recessive type 7 (SCAR7) is a rare clinical manifestation beginning in childhood or adolescence. SCAR7 is caused by tripeptidyl peptidase 1 (TPP1) gene mutations, and presents with cerebellar ataxia, pyramidal signs, neurocognitive impairment, deep paresthesia, and...

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Detalles Bibliográficos
Autores principales: Liu, Rui-Han, Wang, Xin-Yu, Jia, Yuan-Yuan, Wang, Xing-Chen, Xia, Min, Nie, Qiong, Guo, Jia, Kong, Qing-Xia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601013/
https://www.ncbi.nlm.nih.gov/pubmed/37900245
http://dx.doi.org/10.12998/wjcc.v11.i27.6618

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601013/
https://www.ncbi.nlm.nih.gov/pubmed/37900245
http://dx.doi.org/10.12998/wjcc.v11.i27.6618

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