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Perry Syndrome with Intrafamilial Heterogeneity in Presentation and Survival Including Acute Respiratory Failure: Case Series

BACKGROUND: Perry syndrome is a rare autosomal dominant parkinsonian disorder characterized by respiratory failure. The variability in respiratory presentation in this condition is incompletely understood. CASES: We report 2 first‐degree relatives with Perry syndrome attributed to the same mutation...

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Detalles Bibliográficos
Autores principales: Boardman, Jeremy, Mascareno Ponte, Maria, Chaouch, Amina, Kobylecki, Christopher
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9346241/
https://www.ncbi.nlm.nih.gov/pubmed/35937488
http://dx.doi.org/10.1002/mdc3.13473