Marco Spinazzi

Disorders

• Glycogen Storage Disease Type IIb

  

• Mitochondrial Diseases

  

• Optic Nerve Diseases

  

• Autosomal Dominant Optic Atrophy

  

• Meningeal Carcinomatosis

  

• Fatal Outcome

  

• Limb-Girdle Muscular Dystrophies

  

Anatomy

• Muscle, Skeletal

  

• Cells, Cultured

  

• Mitochondrion

  

• Muscles

  

Physiology

• Mutation

  

• Missense Mutation

  

• Electron Transport

  

• Disease Progression

  

• Genotype

  

Chemicals & Drugs

• GTP Phosphohydrolases

  

• Lysosomal-Associated Membrane Protein 2

  

Concepts & Ideas

• Magnetic Resonance Imaging

  

• Sensitivity and Specificity