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1 records shown · first 60Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.
PMID 27268037 | PMCID PMC4897907 | DOI 10.1186/s13104-016-2102-7 · BMC research notes · 2016 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.R741Q | “RESULTS AND CONCLUSION: We identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families.” | 0.95 | hgvs_regex_v1 |
| gene | PLA2G6 | “BACKGROUND: Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families. METHOD: Targeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features. RESULTS AND CONCLUSION: We identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families.” | 0.95 | saudi_context_rules_v1 |