Predicting the CTG Repeat Size from a Single Spirometry Test Performed at Any Time during the Disease Course of Myotonic Dystrophy Type 1

OBJECTIVE: In myotonic dystrophy type 1 (DM1), the CTG repeat size in the dystrophia myotonica protein kinase gene has been shown to correlate with disease severity and is a potential predictive marker for respiratory decline. However, genetic testing can be challenging in some clinical situations....

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Detalles Bibliográficos
Autores principales: Katsuse, Kazuto, Sato, Kenichiro, Tanaka, Nobuyuki, Uchida, Idai, Toda, Tatsushi, Mikata, Takashi, Motoyoshi, Yasufumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9424093/
https://www.ncbi.nlm.nih.gov/pubmed/35908960
http://dx.doi.org/10.2169/internalmedicine.8633-21

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