Description

Scientific Background

• 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)
• Charcot-Marie-Tooth, 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.