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

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

Abstract 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...

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Bibliographic Details
Main Authors: Stuart Fraser, Mary Koenig, Laura Farach, Pedro Mancias, Kate Mowrey
Format: Article
Language:English
Published: Wiley 2021-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
brain‐iron accumulation
clinical genetics
movement disorders
neurodegeneration
Online Access:https://doi.org/10.1002/mgg3.1706

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