Case for the panel. An unusual, common (?) finding in skeletal muscle biopsies.
Abstract
Abstract
Abstract
Abstract To identify and to characterize functionally the mutational basis of congenital myasthenic syndromes (CMS) linked to chromosome 17p.A total of 37 patients belonging to 13 CMS families, 9 of…
Abstract The objectives of this study were to evaluate a novel semiquantitative application of the bioluminescence test for screening newborns for Duchenne muscular dystrophy (DMD) and to use this technique…
Abstract Mitochondrial encephalomyopathies (MEs) are a heterogeneous group of multisystem disorders with extreme variability in clinical phenotype. Due to their complex nature, accurate diagnosis requires a coordinated approach, based on…
Abstract A detailed morphometric analysis of glomerular basement membrane (GBM) thickness was carried out on biopsies from 16 patients exhibiting normal histology and unremarkable immunofluorescence. Eleven of these patients presented…
Abstract The phylogenetic relationships of encephalomyocarditis (EMC) viruses isolated from pigs and rodents in Europe were determined by comparison of nucleotide sequences from two different regions of the virus genome,…
Abstract A simple and reliable technique was developed to distinguish Phlebotomine sandflies by restriction fragment length polymorphism of PCR-amplified (PCR-RFLP) 18S rDNAs. Seven morphologically identified sandflies species from several localities…
Abstract Phylogenetic analysis of partial env sequences of HIV-1 isolates from Cyprus and Greece suggested the existence of a distinct subtype of the virus, designated as I. We examined whether…
Abstract In order to identify genetic factors governing expansion of the CGG repeat in the FMR1 gene and to determine what predisposes or causes a normal stable allele to change…