Chiara Savio

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Mitochondrial dysfunction leads to oxygen free radical (ROS) generation with consequent oxidative stress and cellular damage. Recently, activation of the cellular antioxidant system and apoptosis were demonstrated in skeletal muscle fibres from patients with mitochondrial diseases, but the underlying mechanisms remain unknown. Hydrogen peroxide, a(More)
BACKGROUND The term myofibrillar myopathy refers to a rare and clinically heterogeneous group of muscle disorders. The pathogenesis of this myopathy is not well understood. The morphologic hallmark is myofibrillar destruction with abnormal expression of numerous proteins, most consistently of desmin. METHODS The authors investigated eight patients with(More)
Alpers-Huttenlocher disease (AHD) is a rare encephalopathy of infancy and childhood characterized by myoclonic seizures and progressive neurological deterioration, usually associated with signs and symptoms of liver dysfunction. There is no biological marker of the disease, and ultimate diagnosis still relies on pathological examination. Features of(More)
PURPOSE This paper describes the use of adult facial template in gender-specific facial analysis. SUBJECTS AND METHODS Eighty adults, mean age 24.5, were selected for the study. Laser-scanned images of the subjects were obtained under a reproducible and controlled environment with two Minolta Vivid 900 (Osaka, Japan) optical laser-scanning devices(More)
Point mutations in mtDNA-encoded tRNA genes frequently cause isolated myopathies but rarely cause the facioscapulohumeral phenotype. We report on a patient affected with chronic progressive weakness of facioscapulohumeral/peroneal muscles whose muscle biopsy showed a mitochondrial myopathy. mtDNA direct sequencing and RFLP analysis revealed a heteroplasmic(More)
Peripheral ataxia is reported in a juvenile case of Alpers-Huttenlocher disease (AHD). Neurophysiological and neuropathological investigations revealed a central-peripheral axonopathy, affecting the deep sensation carried by the peripheral nerve fibres and the posterior tracts of the cord, due to neuronal loss of the sensory ganglia. Involvement of the(More)
Phosphoglycerate mutase (PGAM) deficiency causes a rare metabolic myopathy characterized by exercise-related myalgia and myoglobinuria. This disorder was described in 13 patients and five different mutations in the PGAM-M gene were identified. We report on a new patient with an unusual clinical presentation. As a youth, he participated in different sports(More)
Sarcoplasmic masses contain disorganized myofibrillar material and are a striking feature of myotonic dystrophy. However their significance is still unclear. Using immunocytochemistry we studied the expression of cytoskeletal proteins (desmin and vimentin), dystrophin, markers of myogenic differentiation (foetal myosin, neural cell adhesion molecule, bcl-2,(More)
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