VA Confalonieri

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We have investigated protein expression and genotype in 59 Becker muscular dystrophy (BMD) patients. The aim was to identify possible causes of the marked variability in phenotype in patients with similar deletions/mutations. The patients were examined neurologically and functionally and underwent Manual Muscle Testing. Dystrophin expression was analysed by(More)
We have investigated the expression, using immunohistochemistry, of beta- and gamma-sarcoglycans in the muscles of 20 patients in whom previous screening had revealed a deficiency of alpha-sarcoglycan. alpha-, beta- and gamma-sarcoglycans were absent in 7 patients and variably reduced in 8 patients, in 2 of whom beta-sarcoglycan was more reduced than the(More)
We report adhalin deficiency in 8 patients with clinically diagnosed muscular dystrophy, dystrophic histopathological features, high plasma creatine kinase levels, normal expression of dystrophin, and marked variability of symptoms. Although the distribution of hyposthenia was similar in all 8 patients and predominantly involved muscles in the pelvic(More)
South American populations of Trimerotropis pallidipennis are polymorphic for pericentric inversions and B-chromosomes. Previous studies revealed the existence of altitudinal, latitudinal and longitudinal clines for 9 chromosomal sequences, whose repetition in independent groups of populations and over a wide area suggested the action of natural selection.(More)
We treated adult mice with human recombinant interleukin-2 (IL-2) and determined the expression of the genes encoding for the major central and peripheral myelin proteins. In the CNS, myelin basic protein (MBP) and myelin-associated glycoprotein (MAG) mRNA levels were the same both in IL-2-treated and in control mice. Proteolipid protein (PLP) transcript(More)
Isozyme studies were carried out in 3 populations of Trimerotropis palli-dipennis from Tucumin and San Luis Provinces (TU, SLi and SL 2) (Argentina). The purposes of this study were: determination of the numbers of genes and alleles involved in the production of the isozymes and their frequencies, detection of diagnostic loci for population identification(More)
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