title: Familial thrombocytopenia and myopathy.
abstract: We report a family in which a combination of myopathy and thrombocytopenia is transmitted as an autosomal dominant characteristic through three generations. The myopathy has unusual histological features with type II fibre atrophy and vacuolation while the thrombocytopenia appears to be due to a defect in megakaryocyte maturation, platelet morphology and function being normal. The haematological findings in such a family have not been described previously.
authors.affiliation: Department of Haematology, Royal Manchester Children's Hospital.
authors.forename: P A
authors.initials: PA
authors.lastname: Carrington
authors.forename: D I
authors.initials: DI
authors.lastname: Evans
authors.forename: W J
authors.initials: WJ
authors.lastname: Cumming
authors.forename: M
authors.initials: M
authors.lastname: Mahon
authors.forename: F
authors.initials: F
authors.lastname: Kristmundsdottir
mesh_terms: D000328:Adult; D000368:Aged; D001792:Blood Platelets / Q000648:ultrastructure; D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000032:analysis; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology / Q000648:ultrastructure; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology; D009246:NADH Tetrazolium Reductase / Q000032:analysis; D010375:Pedigree; D013921:Thrombocytopenia / Q000151:congenital / Q000235:genetics*; D014617:Vacuoles / Q000648:ultrastructure
chemical_list: D009246:NADH Tetrazolium Reductase; D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase