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.