title: Limb girdle muscular dystrophy with autosomal dominant inheritance.
abstract: We describe a patient suffering from limb-girdle muscular dystrophy with autosomal dominant inheritance proved by the presence of other similar cases in both sexes scattered over 4 generations of his family tree. In all patients the symptoms appeared in adult age and pelvi-femoral preceded scapulo-humeral involvement. Clinical expressivity has been variable, but rather benign without any reduction in life expectancy. Myopathic changes with vacuoles were present in muscle on light and electron microscopic examination. In the literature we found at least another 5 genealogies with autosomal dominant LGMD which had similar clinical and pathological features to those of our patient.
authors.affiliation: Department of Neurology, University of Florence, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Marconi
authors.forename: A
authors.initials: A
authors.lastname: Pizzi
authors.forename: C G
authors.initials: CG
authors.lastname: Arimondi
authors.forename: B
authors.initials: B
authors.lastname: Vannelli
mesh_terms: D001706:Biopsy; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010388:Pelvis; D012782:Shoulder; D014057:Tomography, X-Ray Computed