TPM3 mutation in one of the original cases of cap disease

Neurology. 2009 Jun 2;72(22):1961-3. doi: 10.1212/WNL.0b013e3181a82659.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Amino Acid Substitution / genetics
  • Craniofacial Abnormalities / genetics
  • DNA Mutational Analysis
  • Disease Progression
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Muscle Weakness / genetics
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Muscular Diseases / diagnosis
  • Muscular Diseases / genetics*
  • Muscular Diseases / physiopathology*
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Pneumonia / etiology
  • Respiration, Artificial
  • Respiratory Paralysis / complications
  • Respiratory Paralysis / physiopathology
  • Spinal Curvatures / etiology
  • Tropomyosin / genetics*

Substances

  • Genetic Markers
  • TPM3 protein, human
  • Tropomyosin