Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations

BACKGROUND: Parkin mutations are suspected in early-onset Parkinson’s disease with early motor complications, and in pedigrees showing an autosomal recessive pattern. Some compound heterozygous mutations can present with various uncommon phenotypes. CASE REPORT: Two siblings with the same mutations,...

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Detalles Bibliográficos
Autores principales: Millar Vernetti, Patricio, Rossi, Malco, Merello, Marcelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7427657/
https://www.ncbi.nlm.nih.gov/pubmed/32864185
http://dx.doi.org/10.5334/tohm.55

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7427657/
https://www.ncbi.nlm.nih.gov/pubmed/32864185
http://dx.doi.org/10.5334/tohm.55

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