Table 1.
Diagnostic biopsies: clinical and genetic data of the corresponding patients with Charcot–Marie–Tooth type 1
| Patient | Charcot–Marie–Tooth type 1 affected gene mutation | Sex | Age at biopsy (years) | Age at onset (years) | Tissue preservation | Previously published | Source |
|---|---|---|---|---|---|---|---|
| X1 | CMT1X Cx32 Arg22Gln | M | 12 | 9 | Glutaraldehyde | (Senderek et al., 1998, 1999) | A |
| X2 | CMT1X Cx32 679insT | M | 28 | 8 | Glutaraldehyde | (Senderek et al., 1999) | A |
| X3 | CMT1X Cx32 Pro172Ser | M | 47 | 40 (slim ankles and feet since childhood) | Glutaraldehyde/ fresh frozen | – | W |
| A1 | CMT1A PMP22 duplication | M | 59 | 49 | Glutaraldehyde | – | A |
| A2 | CMT1A PMP22 duplication | F | 54 | 26 | Glutaraldehyde | – | A |
| A3 | CMT1A PMP22 duplication | M | 58 | 33 | Glutaraldehyde | – | A |
| NP | CMT1a | F | 54 | 53 | Glutaraldehyde/ fresh frozen | – | W |
a Clinical investigation and family history unequivocally identified the patient as suffering from Charcot–Marie–Tooth type 1. Since the patient refused genetic analysis, a detailed diagnosis (e.g. Charcot–Marie–Tooth type 1A) was not possible.
A = Institute of Neuropathology, RWTH Aachen University; CMT = Charcot–Marie–Tooth; W = Department of Neurology, University of Würzburg.