A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration-Reference-Cited by-同舟云学术

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

Published:2021-05-27 Issue:7 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Fraser Stuart¹^ORCID,Koenig Mary¹,Farach Laura²,Mancias Pedro¹,Mowrey Kate²^ORCID

Affiliation:

1. Department of Pediatrics Division of Child and Adolescent Neurology McGovern Medical School University of Texas Health Science Center at Houston Houston Texas USA

2. Department of Pediatrics Division of Medical Genetics McGovern Medical School University of Texas Health Science Center at Houston Houston Texas USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1706

Reference8 articles.

1. Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

2. Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

3. New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN

4. A de novo C19orf12 heterozygous mutation in a patient with MPAN

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