Familial myopathy with tubular aggregates associated with abnormal pupils.
Shahrizaila
Nortina
N
Department of Neurology, Queen's Medical Centre, University Hospital NHS Trust, Nottingham, UK.
Lowe
James
J
Wills
Adrian
A
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
D007527:Isoenzymes; D003402:Creatine Kinase; D052283:Creatine Kinase, MM Form