title: Familial myopathy with tubular aggregates associated with abnormal pupils.
authors.affiliation: Department of Neurology, Queen's Medical Centre, University Hospital NHS Trust, Nottingham, UK.
authors.forename: Nortina
authors.initials: N
authors.lastname: Shahrizaila
authors.forename: James
authors.initials: J
authors.lastname: Lowe
authors.forename: Adrian
authors.initials: A
authors.lastname: Wills
mesh_terms: D000328:Adult; D000368:Aged; D003402:Creatine Kinase / Q000097:blood; D052283:Creatine Kinase, MM Form; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D007527:Isoenzymes / Q000097:blood; D008297:Male; D008875:Middle Aged; D015877:Miosis / Q000235:genetics*; D018656:Muscle Fibers, Fast-Twitch / Q000473:pathology; D018908:Muscle Weakness / Q000235:genetics; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D009755:Night Blindness / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D012021:Reflex, Abnormal; D012519:Sarcoplasmic Reticulum / Q000648:ultrastructure
chemical_list: D007527:Isoenzymes; D003402:Creatine Kinase; D052283:Creatine Kinase, MM Form