Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study.
Sciacco
Monica
M
Prelle
Alessandro
A
D'Adda
Elisabetta
E
Lamperti
Costanza
C
Bordoni
Andreina
A
Rango
Mario
M
Crimi
Marco
M
Comi
Giacomo P
GP
Bresolin
Nereo
N
Moggio
Maurizio
M
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
D004272:DNA, Mitochondrial