@article {942,
	title = {Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.},
	journal = {Parkinsonism Relat Disord},
	volume = {82},
	year = {2021},
	month = {2021 01},
	pages = {84-86},
	abstract = {<p>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.</p>},
	issn = {1873-5126},
	doi = {10.1016/j.parkreldis.2020.10.041},
	author = {Rickman, Olivia J and Salter, Claire G and Gunning, Adam C and Fasham, James and Voutsina, Nikol and Leslie, Joseph S and McGavin, Lucy 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}
}
