A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration

BACKGROUND: Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogenic variants in C19orf12. Recent evidence has proposed that MPAN can also follow...

Descripción completa

Detalles Bibliográficos
Autores principales: Fraser, Stuart, Koenig, Mary, Farach, Laura, Mancias, Pedro, Mowrey, Kate
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372066/
https://www.ncbi.nlm.nih.gov/pubmed/34041867
http://dx.doi.org/10.1002/mgg3.1706

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372066/
https://www.ncbi.nlm.nih.gov/pubmed/34041867
http://dx.doi.org/10.1002/mgg3.1706

Ejemplares similares