| autosomaal recessieve spastische paraplegie type 39 (aandoening) |
| autosomaal recessieve spastische paraplegie type 39 |
| SPG39
spastische paraplegie door neuropathische target esterase-mutatie
spastische paraplegie door NTE-mutatie
|
| Autosomal recessive spastic paraplegia type 39 |
| Spastic paraplegia due to neuropathy target esterase mutation
Spastic paraplegia due to NTE (neuropathy target esterase) mutation
|
| This syndrome has characteristics of progressive spastic paraplegia and distal muscle wasting. So far, it has been described in two families. All affected individuals carried mutations in the neuropathy target esterase (NTE) gene, encoding a neural membrane protein. |
