title: Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.
abstract: The clinical, morphological and biochemical findings of a sporadic case, showing accumulation of desmin-type intermediate filaments in skeletal muscle and myocardium are described. Desmin storage was demonstrated by immunofluorescence, sodium dodecyl sulfate gel electrophoresis and two-dimensional gel electrophoresis. These findings are in agreement with those of Rappaport et al. (FEBS lett. 231:421-425, 1989). A sensory-motor polyneuropathy was established by electrophysiological studies and, ultrastructurally, intramuscular nerves showed accumulation of neurofilaments and neurotubules with formation of axonal spheroids. These findings are discussed considering all previous reports with related conditions.
authors.affiliation: Department of Neuropediatrics, Bambino Gesu' Hospital, Rome, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: C
authors.initials: C
authors.lastname: Bosman
authors.forename: E
authors.initials: E
authors.lastname: Ricci
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: R
authors.initials: R
authors.lastname: Boldrini
authors.forename: M
authors.initials: M
authors.lastname: Sabatelli
authors.forename: G
authors.initials: G
authors.lastname: Salviati
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000378:metabolism / Q000473:pathology*; D002648:Child; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007382:Intermediate Filaments / Q000378:metabolism / Q000473:pathology*; D008854:Microscopy, Electron; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D009468:Neuromuscular Diseases / Q000378:metabolism / Q000473:pathology*; D009474:Neurons / Q000378:metabolism / Q000473:pathology*