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Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is the most common pediatric‐onset form of muscular dystrophy, occurring in 1 in 5,000 live male births. DMD is a multi‐system disease resulting in muscle weakness with progressive deterioration of skeletal, heart, and smooth muscle, and learning disabilities. Patho...

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Detalles Bibliográficos
Autores principales: Gruber, Dorota, Lloyd‐Puryear, Michele, Armstrong, Niki, Scavina, Mena, Tavakoli, Norma P., Brower, Amy M., Caggana, Michele, Chung, Wendy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826042/
https://www.ncbi.nlm.nih.gov/pubmed/36152336
http://dx.doi.org/10.1002/ajmg.c.32000