Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study

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Bibliographic Details
Published in:Journal of neurology 2003-12, Vol.250 (12), p.1498-1500
Main Authors: Sciacco, Monica, Prelle, Alessandro, D'Adda, Elisabetta, Lamperti, Costanza, Bordoni, Andreina, Rango, Mario, Crimi, Marco, Comi, Giacomo P, Bresolin, Nereo, Moggio, Maurizio
Format: Article
Language:English
Subjects:
Adult
Apoptosis
Ataxia - etiology
Ataxia - genetics
Blotting, Southern
Brain - metabolism
Brain - pathology
Brain - physiopathology
DNA Mutational Analysis
DNA, Mitochondrial - genetics
Female
Humans
In Situ Nick-End Labeling
Leigh Disease - etiology
Leigh Disease - genetics
Magnetic Resonance Spectroscopy
Microscopy, Electron
Mitochondrial Diseases - genetics
Mitochondrial Diseases - physiopathology
Muscle Weakness - etiology
Muscle Weakness - genetics
Muscle, Skeletal - ultrastructure
Pedigree
Phenotype
Point Mutation
Polymorphism, Restriction Fragment Length
Retinitis Pigmentosa - etiology
Retinitis Pigmentosa - genetics
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ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-003-0246-6