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Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
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; Crosby, Andrew H.
Afiliação
  • Rickman OJ; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK.
  • Salter CG; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, SO16 5YA, UK.
  • Gunning AC; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK.
  • Fasham J; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, EX1 2ED, UK.
  • Voutsina N; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK.
  • Leslie JS; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK.
  • McGavin L; Department of Radiology, Derriford Hospital, Plymouth, UK.
  • Cross HE; University of Arizona College of Medicine, Tucson, AZ, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 77030.
  • Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 77030.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA, 77030.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 77030; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA, 77030; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA, 77030; Texas Children's Hospital, Houston, TX,
  • Baple EL; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, EX1 2ED, UK. Electronic address: E.Baple@exeter.ac.uk.
  • Crosby AH; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK. Electronic address: a.h.crosby@exeter.ac.uk.
Parkinsonism Relat Disord ; 82: 84-86, 2021 01.
Article em En | MEDLINE | ID: mdl-33260061
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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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofias Neuroaxonais / Distúrbios do Metabolismo do Ferro / Proteínas Mitocondriais / Membranas Mitocondriais / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofias Neuroaxonais / Distúrbios do Metabolismo do Ferro / Proteínas Mitocondriais / Membranas Mitocondriais / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article