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 1 and 2 chains of collagen IV, as well as mutations in LAMA2, coding for laminin 2.(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.
Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations / D. Tonduti, I. Dorboz, F. Renaldo, J. Masliah-Planchon, M. Elmaleh-Berges, H. Dalens, D. Rodriguez, O. Boespflug-Tanguy. - In: NEUROLOGY. - ISSN 0028-3878. - 84:21(2015 May 26), pp. 2195-2197. [10.1212/WNL.0000000000001607]
Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations
D. TondutiPrimo
;
2015
Abstract
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 1 and 2 chains of collagen IV, as well as mutations in LAMA2, coding for laminin 2.(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.File | Dimensione | Formato | |
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