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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...
Autores principales: | Pelayo, Jerald, Rau, Naraharisetty, Lo, Kevin Bryan, Azmaiparashvili, Zurab |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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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 |
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