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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...

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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

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