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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| 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 |