Familial myopathy with tubular aggregates associated with abnormal pupils

Neurology. 2004 Sep 28;63(6):1111-3. doi: 10.1212/01.wnl.0000138575.14424.5f.

Abstract

The authors describe familial tubular aggregate myopathy associated with abnormal pupils. Four family members from two generations had myopathy and pupillary abnormalities. The myopathologic findings consisted of tubular aggregates in many fibers but predominantly type I fibers.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Creatine Kinase / blood
  • Creatine Kinase, MM Form
  • Female
  • Genes, Dominant
  • Humans
  • Inclusion Bodies / ultrastructure*
  • Isoenzymes / blood
  • Male
  • Middle Aged
  • Miosis / genetics*
  • Muscle Fibers, Fast-Twitch / pathology
  • Muscle Weakness / genetics
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Night Blindness / genetics
  • Pedigree
  • Phenotype
  • Reflex, Abnormal
  • Sarcoplasmic Reticulum / ultrastructure

Substances

  • Isoenzymes
  • Creatine Kinase
  • Creatine Kinase, MM Form