title: Pure quadriceps myopathy in two sisters.
abstract: The authors carried out a clinical, laboratory and muscle computed tomographgy CT follow-up study of 18-21 years on two sisters affected by quadriceps myopathy (QM). The onset in the fourth decade was a weakness in the thighs. During the follow-up study, the patients showed only vasti muscles involvement, normal creatine kinase (CK) levels, myopathic muscle biopsy and electromyography (EMG) and normal membrane protein expression on immunocytochemical analysis. Therefore, all muscle pathologies known to have quadriceps involvement as a leading feature have been ruled out. We conclude that our patients have pure QM with probable autosomal recessive inheritance.
authors.affiliation: Department of Neurology, Pietarsaari Hospital, Pietarsaari, Finland. ibrahim.mahjneh@vshp.fi
authors.forename: I
authors.initials: I
authors.lastname: Mahjneh
authors.forename: H
authors.initials: H
authors.lastname: Somer
authors.forename: A
authors.initials: A
authors.lastname: Paetau
authors.forename: G
authors.initials: G
authors.lastname: Marconi
mesh_terms: D001706:Biopsy / Q000379:methods; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography / Q000379:methods; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008854:Microscopy, Electron; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics; D009431:Neural Conduction / Q000502:physiology; D011859:Radiography; D035781:Siblings; D015898:Tomography Scanners, X-Ray Computed
chemical_list: D003402:Creatine Kinase