CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, AXONAL, AUTOSOMAL DOMINANT

AARS, DYNC1H1, GDAP1, HSPB1, HSPB8, LRSAM1, MFN2, MPZ

Description

Scientific Background

  • CMT 2N (AARS, AD)
  • CMT, axonal 2O (DYNC1H1, 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 2L (HSPB8, AD)
  • CMT 2P (LRSAM1, AD, AR)
  • 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)

 

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

AARS, DYNC1H1, GDAP1, HSPB1, HSPB8, LRSAM1, MFN2, MPZ
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