title: Familial myopathy associated with thrombocytopenia: a clinical and histomorphometric study.
abstract: We describe an unusual vacuolar myopathy with tubular aggregates in a mother and son from a family presenting with a slowly progressive, predominantly limb girdle, weakness and distal upper limb weakness in association with reduced blood clotting ability. To our knowledge this is the first report of a familial clinical defect of both muscle and platelets in the same individuals. The possibility that the primary defect may be due to an abnormality of the tubular intramembranous systems in muscle cells and platelet precursors is discussed.
authors.affiliation: Department of Cell & Structural Biology, Medical School, University of Manchester, U.K.
authors.forename: M
authors.initials: M
authors.lastname: Mahon
authors.forename: W J
authors.initials: WJ
authors.lastname: Cumming
authors.forename: F
authors.initials: F
authors.lastname: Kristmundsdottir
authors.forename: D I
authors.initials: DI
authors.lastname: Evans
authors.forename: P A
authors.initials: PA
authors.lastname: Carrington
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D013921:Thrombocytopenia / Q000150:complications / Q000235:genetics*