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https://www.selleckchem.com/products/chlorin-e6.html 6; 95% confidence interval [CI] 3.9-11.2; = 4.0e-11), but also within non- cases (n = 27; OR 5.3; 95% CI 1.9-14.5; = 0.0014). This finding suggests genetically -independent effects of SCAF4 on fALS susceptibility. Furthermore, carriage of an 18T allele was associated with a 26-month reduction in survival time (95% CI 6.6-40.8; = 0.014), but did not affect age at onset of disease. The findings in this fALS cohort suggest that rs573116164 could have -independent and broader relevance in ALS, warranting further investigation in other fALS and sporadic ALS cohorts, as well as studies of functional effects of the 18T variant on gene expression. The findings in this fALS cohort suggest that rs573116164 could have SOD1-independent and broader relevance in ALS, warranting further investigation in other fALS and sporadic ALS cohorts, as well as studies of functional effects of the 18T variant on gene expression. Description of a new variant of the glutamine-fructose-6-phosphate transaminase 1 ( ) gene causing congenital myasthenic syndrome (CMS) in 3 children from 2 unrelated families. Muscle biopsies, EMG, and whole-exome sequencing were performed. All 3 patients presented with congenital hypotonia, muscle weakness, respiratory insufficiency, head lag, areflexia, and gastrointestinal dysfunction. Genetic analysis identified a homozygous frameshift insertion in the gene (NM_001244710.1 c.686dupC; p.Arg230Ter) that was shared by all 3 patients. In one of the patients, inheritance of the variant was through uniparental disomy (UPD) with maternal origin. Repetitive nerve stimulation and single-fiber EMG was consistent with the clinical diagnosis of CMS with a postjunctional defect. Ultrastructural evaluation of the muscle biopsy from one of the patients showed extremely attenuated postsynaptic folds at neuromuscular junctions and extensive autophagic vacuolar pathology. These results expand on the spectrum of known loss-of-fu

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