Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations
| العنوان: | Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations |
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| المؤلفون: | Julien Masliah-Planchon, Davide Tonduti, Diana Rodriguez, Imen Dorboz, Odile Boespflug-Tanguy, Florence Renaldo, Monique Elmaleh-Bergès, Hélène Dalens |
| المصدر: | Neurology. 84:2195-2197 |
| بيانات النشر: | Ovid Technologies (Wolters Kluwer Health), 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Adult, Male, Pathology, medicine.medical_specialty, medicine.disease_cause, Leukoencephalopathy, Leukoencephalopathies, Laminin, Humans, Medicine, In patient, Gene, Mutation, biology, Cysts, business.industry, Cerebral white matter, Siblings, Cortical dysplasia, medicine.disease, Phenotype, Malformations of Cortical Development, biology.protein, Female, Neurology (clinical), business |
| الوصف: | Several diseases related to anomalies of basement membrane components are known.1,2 Among these disorders, cerebral white matter involvement is well-documented with respect to mutations in COL4A1-2, coding for the α1 and α2 chains of collagen IV, as well as mutations in LAMA2, coding for laminin α2.2 Recently, mutations in another laminin-encoding gene, LAMB1, have been reported in patients presenting a severe malformative encephalopathy.3 We present 2 siblings from a nonconsanguineous family who extend the phenotype of the LAMB1 -related disorder. Acknowledgment: The authors thank all members of the reported family for their participation and Eleonore Eymard Pierre (Laboratoire de Cytogenetique Pr Philippe Vago, CHU de Clermont Ferrand, France) for taking care of the LeukoFrance Biobank. |
| تدمد: | 1526-632X 0028-3878 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0de5981d40746bb5940abef63a63e220Test https://doi.org/10.1212/wnl.0000000000001607Test |
| رقم الانضمام: | edsair.doi.dedup.....0de5981d40746bb5940abef63a63e220 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1526632X 00283878 |
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