eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | paraplegia |
| Comorbidity | C0151313|sensory neuropathy |
| Sentences | 1 |
| PubMedID- 20442790 | Genetic studies have identified several discrete cct subunit genes as the loci for mutations resulting in neurological defects: a 143 bp deletion in cct-gamma causes the no tectal neuron phenotype in zebrafish [22]; a missense mutation in cct-delta causes the mutilated foot phenotype in rats [23]; a missense mutation in cct-epsilon is responsible for mutilating sensory neuropathy with spastic paraplegia in humans [24]. |
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