A
Andrew M. Schaefer
Researcher at Helsinki University Central Hospital
Publications - 1
Citations - 384
Andrew M. Schaefer is an academic researcher from Helsinki University Central Hospital. The author has contributed to research in topics: Mitochondrial DNA & Mitochondrial myopathy. The author has an hindex of 1, co-authored 1 publications receiving 358 citations.
Papers
More filters
Journal ArticleDOI
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Gavin Hudson,Patrizia Amati-Bonneau,Emma L. Blakely,Joanna Stewart,Langping He,Andrew M. Schaefer,Philip G. Griffiths,Kati J. Ahlqvist,Anu Suomalainen,Pascal Reynier,Robert McFarland,D.M. Turnbull,Patrick F. Chinnery,Robert W Taylor +13 more
TL;DR: It is shown that a heterozygous mis-sense mutation in OPA1 leads to multiple mtDNA deletions in skeletal muscle and a mosaic defect of cytochrome c oxidase (COX), demonstrating the importance of OPA 1 in mtDNA maintenance, and implicates OPA2 in diseases associated with secondary defects of mtDNA.