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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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Dades bibliogràfiques
Publicat a:Front Neurol
Autors principals: Kohno, Genta, Ogawa, Katsuhiko, Kushimoto, Masaru, Tanaka, Sho, Ikeda, Jin, Nishizawa, Tsukasa, Mitsuke, Kazutaka, Nakayama, Tomohiro, Suzuki, Yutaka, Ishihara, Hisamitsu, Fujishiro, Midori
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6620565/
https://ncbi.nlm.nih.gov/pubmed/31333559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.00681
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