Charcot-Marie-Tooth disease, type 4F
| Disorder | |
|---|---|
| OMIM #: | #614895 (Click to access OMIM database) |
| Disorder: | Charcot-Marie-Tooth disease, type 4F |
| Also known as: | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F CMT4F |
| Clinical | |
| Phenotype: | Onset form early childhood to mid adulthood; peripheral neuropathy, other peripheral nervous system irregularities, distal sensory impairment, distal muscle wasting, distal muscle weakness, atrophy affecting the lower more than the upper limbs, scoliosis, pes caves |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | PRX |
| Base Change: | T>A, at nucleotide 2145 |
| Amino Acid Change: | |
| Last updated: | 2022-11-03 |
| References |
|---|
| Personal communication; seen at CSC. |
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