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Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report
Here we report on two unrelated adult patients presenting with Limb girdle muscular dystrophy who were found to have novel variants in ANO5. Both patients had prominent weakness of their proximal lower limbs with mild weakness of elbow flexion and markedly elevated creatine kinase. Next generation s...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9033199/ https://www.ncbi.nlm.nih.gov/pubmed/35463132 http://dx.doi.org/10.3389/fneur.2022.868655 |