SCIENTIFIC BACKGROUND

ATL1, DNM2, EGR2, GARS, GDAP1, HSPB1, IGHMBP2, KIF1B, LITAF, MFN2, MPZ, NEFL, NGF, PMP22, RAB7A

Scientific Background

  • Charcot-Marie-Tooth (CMT), axonal 2M; CMT, dominant intermediate B (DNM2, AD)
  • CMT 1D (EGR2, AD, AR)
  • CMT 2D (GARS, AD)
  • CMT axonal, with vocal cord paresis, CMT recessive (GDAP1, AR)
  • CMT recessive intermediate type A (GDAP1, AR)
  • CMT type 4A, CMT4A (GDAP1, AR)
  • CMT, axonal 2K (GDAP1, AD, AR)
  • CMT 2F (HSPB1, AD)
  • CMT, axonal, type 2S (IGHMBP2, AR)
  • CMT 2A1 (KIF1B, AD)
  • CMT 1C (LITAF, AD)
  • CMT, axonal, type 2A2A (MFN2, AD)
  • CMT, axonal, type 2A2B (MFN2, AR)
  • CMT 1B (MPZ, AD)
  • CMT 2I (MPZ, AD)
  • CMT dominant intermediate type D (MPZ, AD)
  • CMT 1F (NEFL, AD, AR)
  • CMT 2E (NEFL, AD)
  • CMT, dominant intermediate, type G (NEFL, AD)
  • CMT, type 1A (PMP22, AD)
  • CMT 1E (PMP22, AD)
  • CMT 2B (RAB7A, AD)

 

Disorders are inherited in an autosomal dominant (AD) or autosomal recessive (AR) pattern.

 

For detailed information on Charcot-Marie-Tooth disease and diagnostics, please visit our overview page HEREDITARY NEUROPATHIES.

GENES
ATL1, DNM2, EGR2, GARS, GDAP1, HSPB1, IGHMBP2, KIF1B, LITAF, MFN2, MPZ, NEFL, NGF, PMP22, RAB7A
How to order