title: Quantitative histopathology in congenital myopathies.
abstract: A histo-morphometric analysis has been carried out in 23 muscle biopsies obtained from patients with congenital myopathies (6 nemaline m., 10 centronuclear m., 4 central core m., 3 multicore m.) in order to improve diagnosis and to confirm the data available in literature. No relationship has been found between the severity of the disease and the histo-pathological features as previously described. Nevertheless, the following pathological aspects diverge from previous reports: a) the absence of rods within the nuclei and of mitochondrial abnormalities in nemaline myopathy; b) the presence of type I fiber hypertrophy and of mitochondrial alterations in 30% of the patients with centronuclear myopathy; c) the presence of cores even in type II fibers, mitochondrial abnormalities, nucleosis, inflammatory cellular reaction and fibrosis in addition to the absence of rods in central core myopathy; d) the type I fiber hypertrophy in all patients with multicore myopathy.
authors.affiliation: Clinica Neurologica, Università, Padova.
authors.forename: G
authors.initials: G
authors.lastname: Micaglio
authors.forename: M B
authors.initials: MB
authors.lastname: Ceccato
authors.forename: C
authors.initials: C
authors.lastname: Trevisan
authors.forename: C
authors.initials: C
authors.lastname: Angelini
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000648:ultrastructure*; D009135:Muscular Diseases / Q000145:classification / Q000473:pathology*