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Action Myoclonus-Renal Failure Syndrome: A Case Report with Bioinformatic Annotations

Action myoclonus-renal failure (AMRF) syndrome is a rare autosomal recessive disorder characterized by myoclonic epilepsy with occasional renal failure comorbidity. This study examines a consanguineous family with multiple members presenting myoclonic epilepsy. The disease's continued transmiss...

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Detalles Bibliográficos
Autores principales:	Ekmekci, Hakan, Qutob, Omar, Babayev, Huseyn, Şahin, Ali
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10390031/ https://www.ncbi.nlm.nih.gov/pubmed/37529812 http://dx.doi.org/10.7759/cureus.41261

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