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...

Descripción completa

Detalles Bibliográficos
Autores principales: Higinbotham, Alissa S., DeBrosse, Suzanne D., Kilbane, Camilla W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2023
Materias:
Case Report
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

Internet

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

Ejemplares similares