@article{43d0a45466d94c9c9d074d606d84d014,
title = "Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform",
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.",
keywords = "C19orf12, MPAN, NBIA",
author = "Rickman, {Olivia J.} and Salter, {Claire G.} and Gunning, {Adam C.} and James Fasham and Nikol Voutsina and Leslie, {Joseph S.} and Lucy McGavin and Cross, {Harold E.} and Posey, {Jennifer E.} and Akdemir, {Zeynep Coban} and Jhangiani, {Shalini N.} and Lupski, {James R.} and Baple, {Emma L.} and Crosby, {Andrew H.}",
note = "Funding Information: First and foremost, we are very grateful to the Amish family for taking part in this study and to the Amish community for their continued support of the Windows of Hope Project. The work was supported by MRC grants G1002279 (ELB), G1001931 (AHC), Newlife Foundation for Disabled Children (ELB, AHC), the Halpin Trust (ELB, AHC), Wellcome Trust GW4-CAT Fellowship 216279/Z/19/Z (CGS), and by the Hereditary Spastic Paraplegia Foundation Support Group / the University of Exeter Diamond Jubilee Fund (AHC, ELB). This study was supported in part by the U.S. National Human Genome Research Institute (NHGRI) and National Heart Lung and Blood Institute (NHBLI) to the Baylor-Hopkins Center for Mendelian Genomics (BHCMG, UM1 HG006542 , J.R.L). Publisher Copyright: {\textcopyright} 2020",
year = "2021",
month = jan,
doi = "10.1016/j.parkreldis.2020.10.041",
language = "English (US)",
volume = "82",
pages = "84--86",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",
}