CHARCOT-MARIE-TOOTH DISEASE

GDAP1, GJB1, HINT1, MFN2, MPZ, PMP22, SH3TC2

Description

Scientific Background

  • 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)
  • Charcot-Marie-Tooth, X-chromosomal dominant, 1 (GJB1, XLD)
  • CMT X1 (GJB1, XL)
  • 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)
  • Charcot-Marie-Tooth, type 1A (PMP22, AD)
  • CMT 1E (PMP22, AD)
  • CMT 4C (SH3TC2, AR)

 

Disorders are inherited in an autosomal dominant (AD) or autosomal recessive (AR) or X-linked (XL) or X-linked dominant (XLD) pattern.

 

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

GENES

GDAP1, GJB1, HINT1, MFN2, MPZ, PMP22, SH3TC2
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