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Familial spontaneous pneumothorax and Machado–Joseph disease

We report the first known case of a 42-year-old man diagnosed with spinocerebellar ataxia type 3, also known as Machado–Joseph disease (MJD), who presented with recurrent spontaneous pneumothorax. Six other family members affected with MJD died of the same pulmonary complication. To date, there has...

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Detalles Bibliográficos
Autores principales: Pelayo, Jerald, Rau, Naraharisetty, Lo, Kevin Bryan, Azmaiparashvili, Zurab
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507872/
https://www.ncbi.nlm.nih.gov/pubmed/32995032
http://dx.doi.org/10.1093/omcr/omaa078