Home Index Search Links Pathology Molecules Syndromes   Muscle NMJ Nerve Spinal Ataxia Antibody & Biopsy Patient Information

Digenic Disorders

• Myopathy
  • Myopathy: Titin + SRPK3
  • Distal myopathy: SQSTM1 + TIA1
  • FSHD syndromes: DUX4 +
    • FSHD2: SMCHD1
    • FSHD3: LRIF1
    • FSHD4: DNMT3B
  • Myopathy + Cardiomyopathy: TRIM63 + TRIM54
• Myasthenia Gravis
  • Congenital: AK9 + RAPSN
• Neuropathy
  • Pain Insensitivity: FAAH + FAAHP1
  • HMSN: EGR2 + LITAF
• Other
  • Atrial Standstill: GJA5 + SCN5A
  • SCA17: TBP + STUB1
  • Proteasome-Associated Autoinflammatory Syndrome: PSMB8 + PSMA3 or PSMB4