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A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia
BACKGROUND: Epsilon-sarcoglycan (SGCE) myoclonus-dystonia is autosomal dominant (AD) with reduced penetrance due to maternal imprinting 95% of the time. Patients may lack family history delaying diagnosis and treatment. Additionally, counseling patients on their risk of passing on the variant differ...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Ubiquity Press
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453946/ https://www.ncbi.nlm.nih.gov/pubmed/37637852 http://dx.doi.org/10.5334/tohm.783 |