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Identification of the cause of juvenile parkinsonism in a case_SYNJ1

This study aimed to elucidate the genetic causes underlying the Juvenile Parkinsonism diagnosed in a girl using whole-exome sequencing, analysis of CAG repeats, RNA sequencing analysis on fibroblasts, and metabolite identification. As a result, a homozygous missense mutation SNP T/C (rs2254562) in SYNJ1 and alteration in metabolism were identified.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Publication

Publications	Citations
Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach. Leno-Durán E, Arrabal L, Roldán S, Medina I, Alcántara-Domínguez C, García-Cabrera V, Saiz J, Barbas C, Sánchez MJ, Entrala-Bernal C, Fernández-Rosado F, Lorente JA, Gutierrez-Ríos P, Martínez-Gonzalez LJ. Int J Mol Sci 25: 2024 9754	0