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| References | OMIM | Gene | GeneReviews | HGMD | HGNC |
| GENATLAS PHENOTYPE |
| last update : 18/07/2006 |
| Symbol | LMND |
| Location | 2p13.1 |
| Name | lower motor neuron disease, dynactin type |
| Corresponding gene | DCTN1 |
| Other symbol(s) | PLMND |
| Main clinical features | slowly progressive, without sensory symptoms |
| Genetic determination | autosomal dominant |
| Function/system disorder | neurology |
| Type | disease |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments | |
|---|---|---|---|---|
| missense | abnormal protein/loss of function | G59S mutation disrupting the folding of the CAP-Gly domain |
| Remark(s) |