Charcot-Marie-Tooth disease type 1A (Q9190339)
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Charcot-Marie-Tooth disease type 1 that has material basis in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22)
- CMT1A
- Charcot-Marie-Tooth neuropathy type 1A
- HMSN1A
- autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A
- hereditary motor and sensory neuropathy 1A
- microduplication 17p12
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Charcot-Marie-Tooth disease type 1A |
Charcot-Marie-Tooth disease type 1 that has material basis in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22) |
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C75468
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