Article
Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation.
Journal of neurology - 1 Sept 2001
Sciacco M, Prelle A, Comi G P, Napoli L, Battistel A, Bresolin N, Tancredi L, Lamperti C, Bordoni A, Fagiolari G, Ciscato P, Chiveri L, Perini M P, Fortunato F, Adobbati L, Messina S, Toscano A, Martinelli-Boneschi F, Papadimitriou A, Scarlato G, Moggio M
Abstract excerpt
Mitochondrial disorders are human genetic diseases with extremely variable clinical and genetic features. To better define them, we made a genotype-phenotype correlation in a series of 207 affected patients, and we examined most of them with six laboratory examinations (serum CK and basal lactate levels, EMG, cardiac and EEG studies, neuroradiology). We found that, depending on the genetic abnormality,...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Brain
- Child
- Child, Preschool
- Creatine Kinase
- DNA, Mitochondrial
- Electroencephalography