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Irreversible connective tissue proliferation in muscle is a pathological hallmark of Duchenne muscular dystrophy (DMD), a genetic degenerative muscle disease due to lack of the sarcolemmal protein dystrophin. Focal release of transforming growth factor-beta1 (TGF-beta1) is involved in fibrosis development. Murine muscular dystrophy (mdx) is genetically(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)
Idiopathic inflammatory myopathies (IIM) are muscle diseases of autoimmune pathogenesis characterized by mononuclear cell infiltration within muscle tissue. Since immune cell homing and accumulation at the site of antigenic challenge is usually mediated by chemokines, we evaluated the expression of 2 beta-chemokines--monocyte chemoattractant protein-1(More)
We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and(More)
Nonsense mutations outside the splicing consensus sequence have been reported to cause skipping of the nonsense-containing exon in several human diseases. We describe, for the first time, nonsense-mediated exon skipping in the laminin alpha2 (LAMA2) gene. Two siblings from a consanguineous family had altered expression of the laminin alpha2 chain and(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)
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)
A 25-month-old girl had proximal myopathy, increased blood lactate and pyruvate concentrations, and transient ketoacidosis. Muscle biopsy revealed vacuolar myopathy with accumulation of both lipid and glycogen. Electronmicroscopy also showed abnormalities in the shape, size, and internal structure of muscle mitochondria. Carnitine content of skeletal muscle(More)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected(More)
We evaluated transforming growth factor-beta1 (TGF-beta1) expression in the muscle of four laminin alpha2-negative, four laminin alpha2-positive and seven partial laminin alpha2-deficient congenital muscular dystrophy (CMD) patients, and compared it to Duchenne muscular dystrophy (DMD) patients and controls. TGF-beta1 mRNA levels in skeletal muscle from(More)