Charcot-Marie-Tooth Disease, Type 4A
| Disorder | |
|---|---|
| OMIM #: | #214400 (Click to access OMIM database) |
| Disorder: | Charcot-Marie-Tooth Disease, Type 4A |
| Also known as: | CMT4A, CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4A |
| Clinical | |
| Phenotype: | Onset from infancy to early childhood, peripheral neuropathy, other peripheral nervous system irregularities, distal muscle wasting, distal muscle weakness, distal sensory impairment, hyporeflexia, inability to walk, vocal cord paresis, proximal muscle involvement in later stages |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | GDAP1, E5 region |
| Base Change: | c.692C>T |
| Amino Acid Change: | p.P231L |
| Last updated: | 2022-11-03 |
| References |
|---|
| Beighton PH. (1971) Recessively inherited Charcot-Marie-Tooth syndrome in identical twins. Birth Defects Orig Artic Ser 7(2): 105. PubMed ID: 5173114 |
| Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H. (2008) A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family. Clin Genet 74(3):274-8.. PubMed ID: 18492089 |
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