Charcot-Marie-Tooth disease type 4C
| Disorder | |
|---|---|
| OMIM #: | #601596 (Click to access OMIM database) |
| Disorder: | Charcot-Marie-Tooth disease type 4C |
| Also known as: | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4C |
| Clinical | |
| Phenotype: | Onset usually in childhood and adolescence, but could occur into adulthood; peripheral neuropathy, other peripheral nervous system irregularities, distal muscle wasting, distal muscle weakness, distal sensory impairment, gait difficulties, foot deformities, various facial weaknesses, scoliosis |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | SH3TC2 |
| Base Change: | C>T, at nucleotide 2860 |
| Amino Acid Change: | arg 954 --> term |
| Last updated: | 2022-11-03 |
| References |
|---|
| Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG. (2018) Genomic diagnostics within a medically underserved population: efficacy and implications. Genet Med Jan;20(1):31-41. PubMed ID: 28726809 |
Back