AMYOTROPHIC LATERAL SCLEROSIS 12
General Information (adopted from Orphanet):
|Number of Symptoms||5|
Prevalence, inheritance and age of onset:
|Prevalence:||No data available.|
|Age of onset:||
Disease classification (adopted from Orphanet):
|Parent Diseases:||No data available.|
ClinVar (via SNiPA)
|Gene symbol||Variation||Clinical significance||Reference|
|Clinical Description OMIM||
Of 6 Japanese individuals from consanguineous marriages who had ALS, Maruyama et al. (2010) identified 3 with mutations in the OPTN gene. Two were sibs. One member of the sib pair developed muscle weakness of her left arm ...
|Molecular genetics OMIM||
Among 8 Japanese patients with ALS, Maruyama et al. (2010) identified homozygosity for 2 null mutations in the OPTN gene, one a deletion of exon 5 (602432.0005) in 2 sibs and the other a nonsense mutation (Q398X; 602432.0006) ...