title: Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study.
authors.forename: Monica
authors.initials: M
authors.lastname: Sciacco
authors.forename: Alessandro
authors.initials: A
authors.lastname: Prelle
authors.forename: Elisabetta
authors.initials: E
authors.lastname: D'Adda
authors.forename: Costanza
authors.initials: C
authors.lastname: Lamperti
authors.forename: Andreina
authors.initials: A
authors.lastname: Bordoni
authors.forename: Mario
authors.initials: M
authors.lastname: Rango
authors.forename: Marco
authors.initials: M
authors.lastname: Crimi
authors.forename: Giacomo P
authors.initials: GP
authors.lastname: Comi
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
mesh_terms: D000328:Adult; D017209:Apoptosis; D001259:Ataxia / Q000209:etiology / Q000235:genetics; D015139:Blotting, Southern; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D020287:In Situ Nick-End Labeling; D007888:Leigh Disease / Q000209:etiology / Q000235:genetics; D009682:Magnetic Resonance Spectroscopy; D008854:Microscopy, Electron; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000503:physiopathology; D018908:Muscle Weakness / Q000209:etiology / Q000235:genetics; D018482:Muscle, Skeletal / Q000648:ultrastructure*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D012174:Retinitis Pigmentosa / Q000209:etiology / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial