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ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles
Actinopathy is a group of clinically and pathologically heterogeneous myopathies due to mutations in the skeletal muscle sarcomeric α-actin 1-encoding gene (ACTA1). Disease-onset spans from prenatal life to adulthood and weakness can preferentially affect proximal or distal muscles. Myopathological...
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| Publicado en: | Neuromuscul Disord |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2019
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6812538/ https://ncbi.nlm.nih.gov/pubmed/30987788 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2019.02.012 |
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