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Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked inherited disease characterized by early contracture of the elbows, Achilles tendons and post-cervical muscles, slow progressive muscle wasting and weakness and cardiomyopathy presenting with arrhythmia and atrial paralysis: heart block can eventually lead to sudden death. The EDMD geneencodes a novel(More)
Two men and one woman with debrancher deficiency had symptoms and signs of neuromuscular disease. The two men had adult-onset and slowly progressive weakness, distal muscle wasting, "mixed" electromyographic patterns, and slow nerve conduction velocities; the initial diagnosis was Charcot-Marie-Tooth disease in one patient and motor neuron disease in the(More)
Azathioprine (Aza) has been used alone or in combination with steroids for two groups of myasthenic patients. Positive responses were noted in 75% of patients on Aza alone and in 70% receiving the combined regimen. The clinical course of the two groups differed in terms of respiratory crisis and need for plasma exchange. With an appropriate Aza(More)
Duchenne muscular dystrophy is a fatal disorder characterized by progressive muscular weakness, wasting, and severe muscle contractures in later disease stages. Muscle biopsy reveals conspicuous myofiber degeneration and fibrosis substituting muscle tissue. We quantitatively determined mRNA of the potent fibrogenic cytokine transforming growth factor-beta 1(More)
We have studied the presence of calcitonin gene-related peptide (CGRP) immunoreactivity at the human motor end-plate in intercostal muscles from 6 normal subjects. Only a small proportion of end-plates were positively stained in the muscle. Different metabolic states at single motor end-plates or variable rates of CGRP synthesis in separate motoneurones(More)
Immunocytochemical localization and immunoblot analysis of dystrophin in muscle fibers of 11 obligate and probable, and 7 possible carriers of Duchenne and Becker muscular dystrophy revealed an abnormal expression of the protein in 3 of them. Localization of calcium and albumin, as endogenous markers of extracellular fluid penetration, showed the presence(More)
Aim of this study is to verify whether there is concordance between disease’s severity, health-related quality of life (HRQoL) and disability in patients with Myasthenia gravis (MG). 102 MG patients were clustered on the basis of HRQoL and disability scores into three groups: low disability and low HRQoL decrement (51 patients), intermediate disability and(More)
Experimental autoimmune myasthenia gravis (EAMG), a model for human myasthenia (MG), is routinely induced in susceptible rat strains by a single immunization with Torpedo acetylcholine receptor (TAChR). TAChR immunization induces anti-AChR Abs that cross-react with self AChR, activate the complement cascade, and promote degradation of the postsynaptic(More)
Three patients affected by a progressive myopathy with rapid lethal evolution are presented. Excessive lipid storage was found in type 1 fibres of muscle and in liver, kidney, and myocardium. Carnitine concentrations were markedly reduced in muscle, plasma, and heart, significantly lower in the liver, and normal in kidney. D-L carnitine replacement therapy(More)
Data from 756 myasthenic patients were analyzed for diagnostic criteria, clinical aspects, and therapeutic approaches. The patients were followed up at our institution from 1981 to 2001. Clinical evaluation was performed according to the myasthenia gravis score adopted at our clinic. Clinical features of each patient (comprising demographic, clinical,(More)