Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

BACKGROUND AND OBJECTIVES: To determine the genetic cause of the disease in the previously reported family with adult-onset autosomal dominant distal myopathy (myopathy, distal, 3; MPD3). METHODS: Continued clinical evaluation including muscle MRI and muscle pathology. A linkage analysis with single...

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Detalles Bibliográficos
Autores principales: Hackman, Peter, Rusanen, Salla M., Johari, Mridul, Vihola, Anna, Jonson, Per Harald, Sarparanta, Jaakko, Donner, Kati, Lahermo, Päivi, Koivunen, Sampo, Luque, Helena, Soininen, Merja, Mahjneh, Ibrahim, Auranen, Mari, Arumilli, Meharji, Savarese, Marco, 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/PMC8552285/
https://www.ncbi.nlm.nih.gov/pubmed/34722876
http://dx.doi.org/10.1212/NXG.0000000000000632

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