title: Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.
authors.affiliation: Clinical Biology, Instituto Jacinto Magalhaes, Porto, Portugal.
authors.forename: L
authors.initials: L
authors.lastname: Vilarinho
authors.forename: C
authors.initials: C
authors.lastname: Barbot
authors.forename: R
authors.initials: R
authors.lastname: Carrozzo
authors.forename: E
authors.initials: E
authors.lastname: Calado
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: A
authors.initials: A
authors.lastname: Guimarães
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000255:Adenosine Triphosphate / Q000096:biosynthesis; D000293:Adolescent; D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D004734:Energy Metabolism / Q000235:genetics; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000201:enzymology* / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008564:Membrane Potentials / Q000235:genetics; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial; D000255:Adenosine Triphosphate; D000251:Adenosine Triphosphatases