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Two Adult Siblings With Myotonic Dystrophy Type 1 With Different Phenotypes Presenting With Chronic Respiratory Insufficiency and Sleep Apnea Syndrome

Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease characterized by progressive muscle weakness and myotonia along with multiple organ system involvements. Overall, DM1 patients show reduced life expectancy, mainly due to respiratory or cardiac abnormalities. Chronic respiratory impair...

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Detalles Bibliográficos
Autores principales: Kohno, Genta, Ogawa, Katsuhiko, Kushimoto, Masaru, Tanaka, Sho, Ikeda, Jin, Nishizawa, Tsukasa, Mitsuke, Kazutaka, Nakayama, Tomohiro, Suzuki, Yutaka, Ishihara, Hisamitsu, Fujishiro, Midori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6620565/
https://www.ncbi.nlm.nih.gov/pubmed/31333559
http://dx.doi.org/10.3389/fneur.2019.00681