Search

Your search keyword '"McGavin, Lucy"' showing total 1 results
Start Over Author "McGavin, Lucy" Publisher elsevier b.v.
1 results on '"McGavin, Lucy"'

1. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.

Author

Rickman, Olivia J., Salter, Claire G., Gunning, Adam C., Fasham, James, Voutsina, Nikol, Leslie, Joseph S., McGavin, Lucy, Cross, Harold E., Posey, Jennifer E., Akdemir, Zeynep Coban, Jhangiani, Shalini N., Lupski, James R., Baple, Emma L., and Crosby, Andrew H.

Subjects
*MITOCHONDRIAL membranes, *NEURODEGENERATION, *MITOCHONDRIA, *DIAGNOSIS of brain diseases, *PROTEINS, *RESEARCH, *BRAIN diseases, *AMISH, *RESEARCH methodology, *MAGNETIC resonance imaging, *EVALUATION research, *COMPARATIVE studies, *RESEARCH funding, *IRON metabolism disorders, *MEMBRANE proteins, *GENETIC techniques, *GENEALOGY
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. [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results