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Neuronopathy, distal hereditary motor, type 2A
rareAny neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene. The presenting symptoms are paresis of the extensor muscles of the big toe and later of the extensor muscles of the feet and chronic neurogenic alterations in electromyography.
- Identifiers
- MONDO:0008025 OMIM:158590
- Causal genes
- HSPB8
- Also known as
- HMN2A · HSPB8 neuronopathy, distal hereditary motor · neuronopathy, distal hereditary motor caused by mutation in HSPB8 · neuronopathy, distal hereditary motor, type IIA
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