Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy

For inherited diseases, obtaining a definitive diagnosis is critical for proper disease management, family planning, and participation in clinical trials. This can be challenging for dysferlinopathy due to the significant clinical overlap between the 30+ subtypes of limb–girdle muscular dystrophy (L...

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Detalles Bibliográficos
Autores principales: Rufibach, Laura, Berger, Kiera, Chakravorty, Samya, Emmons, Sarah, Long, Laurie, Gibson, Greg, Hegde, Madhuri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10056012/
https://www.ncbi.nlm.nih.gov/pubmed/36983702
http://dx.doi.org/10.3390/jpm13030520

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10056012/
https://www.ncbi.nlm.nih.gov/pubmed/36983702
http://dx.doi.org/10.3390/jpm13030520

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