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

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

Research output: Contribution to journalLetterpeer-review

2 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)84-86
Number of pages3
JournalParkinsonism and Related Disorders
Volume82
DOIs
StatePublished - Jan 2021

Keywords

  • C19orf12
  • MPAN
  • NBIA

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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