Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
| العنوان: | Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene |
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| المؤلفون: | Hanna Drac, Diane L. Sherman, Dagmara Kabzińska, Andrzej Kochański, Peter J. Brophy, Anna Kostera-Pruszczyk, Irena Hausmanowa-Petrusewicz |
| المصدر: | Neurology. 66:745-747 |
| بيانات النشر: | Ovid Technologies (Wolters Kluwer Health), 2006. |
| سنة النشر: | 2006 |
| مصطلحات موضوعية: | Male, congenital, hereditary, and neonatal diseases and abnormalities, Disease, Biology, medicine.disease_cause, Exon, Degenerative disease, Sural Nerve, Charcot-Marie-Tooth Disease, medicine, Humans, Age of Onset, Child, Gene, Sequence Deletion, Genetics, Mutation, Genetic Carrier Screening, Membrane Proteins, Protein level, Exons, Anatomy, medicine.disease, Membrane protein, Neurology (clinical), Age of onset |
| الوصف: | Charcot-Marie-Tooth type 4F disease (CMT4F) is an autosomal recessive neuropathy caused by mutations in the PRX gene. To date, only seven mutations have been identified in the PRX gene. In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onset CMT disease. |
| تدمد: | 1526-632X 0028-3878 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::517824767623d2ac37bf6116640c3464Test https://doi.org/10.1212/01.wnl.0000201269.46071.35Test |
| رقم الانضمام: | edsair.doi.dedup.....517824767623d2ac37bf6116640c3464 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1526632X 00283878 |
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