| Autor: |
Henning, Franclo, Naidu, Kireshnee, Record, Christopher J., Dominik, Natalia, Vandrovcova, Jana, Lubbe, Frans, Dercksen, Marli, Wilson, Lindsay A., Van Der Westhuizen, Francois, Reilly, Mary M., Houlden, Henry, Hanna, Michael G., Carr, Jonathan |
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| Zdroj: |
Movement Disorders Clinical Practice; Oct2024, Vol. 11 Issue 10, p1298-1300, 3p |
| Abstrakt: |
The article discusses peroxisome biogenesis disorders caused by pathogenic variants in the PEX11B gene, leading to a range of symptoms including congenital cataracts, intellectual disability, and movement disorders such as tremor, dystonia, and ataxia. A case study of a male patient and his sister with these disorders is presented, highlighting the genetic variant responsible for their condition. The study suggests that late-onset PBDs may have milder clinical features and emphasizes the importance of advanced diagnostic testing for accurate diagnosis. [Extracted from the article] |
| Databáze: |
Complementary Index |
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