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

Internet

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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