Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

BACKGROUND AND OBJECTIVES: To clinically, genetically, and histopathologically characterize patients presenting with an unusual combination of distal myopathy and facial weakness, without involvement of upper limb or shoulder girdle muscles. METHODS: Two families with a novel form of actininopathy w...

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Detalles Bibliográficos
Autores principales: Savarese, Marco, Vihola, Anna, Jokela, Manu E., Huovinen, Sanna Pauliina, Gerevini, Simonetta, Torella, Annalaura, Johari, Mridul, Scarlato, Marina, Jonson, Per Harald, Onore, Maria Elena, Hackman, Peter, Gautel, Mathias, Nigro, Vincenzo, Previtali, Stefano Carlo, Udd, Bjarne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8356702/
https://www.ncbi.nlm.nih.gov/pubmed/34386585
http://dx.doi.org/10.1212/NXG.0000000000000619

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8356702/
https://www.ncbi.nlm.nih.gov/pubmed/34386585
http://dx.doi.org/10.1212/NXG.0000000000000619

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