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Hindi International Journal of Theranostics
Josef Finsterer Author
Subjects of specialization
Affiliation
Biodiversity Conservation, Biodiversity Management, Forest Biodiversity & Conservation, Forest Ecology & Ecosystem Services, Sustainable Forest Management
Krankenanstalt Rudolfstiftung, Vienna, Austria. He has published more than 30 articles, In the field of biodiversity Conservation
Biography
Krankenanstalt Rudolfstiftung, Vienna, Austria. He has published more than 30 articles, In the field of iodiversity Conservation, Biodiversity Management, Forest Biodiversity & Conservation, Abiotic Stress, Plant Molecular Biology.
Publications
Editorial Open Access
Pathogenicity of AIFM1 Variants and Beneficial Effect of Riboflavin Need to Be Appropriately Confirmed
Author(s): Josef Finsterer* and Sinda Zarrouk-Mahjoub
We read with interest the article by Heimer et al. about two pediatric patients with X-linked cerebellar ataxia due to two different mutations in the AIFM1 gene. We have the following comments and concerns.
We do not agree that the mutation c.422C>T is truly pathogenic. Pathognicity was claimed after in-silico prediction and after protein modelling. No other family member carried the mutation, thus there was no segregation, and no biochemical or functional investigations were carried out. Location of the variant in a region where pathogenic mutation cluster not necessarily implies that the variant c.422T>C is also pathogenic.
Patient 2 was initially diagnosed with epilepsia partialis continua and three antiepileptic drugs (AEDs), benzodiazepines, valpr... view more»
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