Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform
Mitochondria membrane protein-associated neurodegeneration (MPAN) neurodegenerative disorder is typically associated with biallelic C19orf12 variants. Here we describe a new and review candidate previous monoallelic de novo C19orf12 variants to define loss of function mutations located in the putative non-membrane spanning C19orf12 isoform as the potential basis of monoallelic MPAN.
84-86
Rickman, Olivia J.
4905c4a1-5c98-44f8-a8f7-928f6f4f911e
Salter, Claire
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Gunning, Adam
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Fasham, James
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Voutsina, Nikol
a86de3b8-5a04-4f66-a5af-2db543552ceb
Leslie, Joseph S
87a08ee0-8585-4ace-b4ed-57718cc3b743
al, et
15b381e6-dfff-46bd-92a5-2295ba76b387
11 November 2020
Rickman, Olivia J.
4905c4a1-5c98-44f8-a8f7-928f6f4f911e
Salter, Claire
fd214de9-a3f8-4db7-93e5-64d399182975
Gunning, Adam
74b9a711-4be5-4556-8dbb-57d601a578a7
Fasham, James
b3f55343-f45d-4984-9d5f-35995d023805
Voutsina, Nikol
a86de3b8-5a04-4f66-a5af-2db543552ceb
Leslie, Joseph S
87a08ee0-8585-4ace-b4ed-57718cc3b743
al, et
15b381e6-dfff-46bd-92a5-2295ba76b387
Rickman, Olivia J., Salter, Claire, Gunning, Adam, Fasham, James, Voutsina, Nikol, Leslie, Joseph S and al, et
(2020)
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Parkinsonism & Related Disorders, 82, .
(doi:10.1016/j.parkreldis.2020.10.041).
Abstract
Mitochondria membrane protein-associated neurodegeneration (MPAN) neurodegenerative disorder is typically associated with biallelic C19orf12 variants. Here we describe a new and review candidate previous monoallelic de novo C19orf12 variants to define loss of function mutations located in the putative non-membrane spanning C19orf12 isoform as the potential basis of monoallelic MPAN.
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Published date: 11 November 2020
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Local EPrints ID: 509387
URI: http://eprints.soton.ac.uk/id/eprint/509387
ISSN: 1353-8020
PURE UUID: e0ed060d-2c18-4072-8a75-244a32d93839
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Date deposited: 19 Feb 2026 17:56
Last modified: 20 Feb 2026 03:12
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Author:
Olivia J. Rickman
Author:
Claire Salter
Author:
Adam Gunning
Author:
James Fasham
Author:
Nikol Voutsina
Author:
Joseph S Leslie
Author:
et al
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