A novel frameshift ACTN2 variant causes a rare adult‐onset distal myopathy with multi‐minicores

INTRODUCTION: Distal myopathies are a group of rare muscle disorders characterized by selective or predominant weakness in the feet and/or hands. In 2019, ACTN2 gene was firstly identified to be a cause of a new adult‐onset distal muscular dystrophy calling actininopathy and another distinctly diffe...

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Detalles Bibliográficos
Autores principales: Chen, Lei, Chen, Dian‐Fu, Dong, Hai‐Lin, Liu, Gong‐Lu, Wu, Zhi‐Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8446211/
https://www.ncbi.nlm.nih.gov/pubmed/34170073
http://dx.doi.org/10.1111/cns.13697

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8446211/
https://www.ncbi.nlm.nih.gov/pubmed/34170073
http://dx.doi.org/10.1111/cns.13697

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