Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

C. Patrono; G. Di Giacinto; E. Eymard-Pierre; F. M. Santorelli; D. Rodriguez; N. De Stefano; A. Federico; R. Gatti; V. Benigno; A. Megarbané; B. Tabarki; O. Boespflug-Tanguy; E. Bertini

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

C. Patrono, G. Di Giacinto, E. Eymard-Pierre, F. M. Santorelli, D. Rodriguez, N. De Stefano, A. Federico, R. Gatti, V. Benigno, A. Megarbané, B. Tabarki, O. Boespflug-Tanguy, E. Bertini

Research output: Contribution to journal › Article › peer-review

Abstract

Reported are the clinical, neuroradiologic, and molecular findings in 18 patients with megalencephalic leukoencephalopathy and subcortical cysts (MLC) syndrome. Marked clinical intrafamilial and interfamilial variability in mutation-proven cases was found. A broad spectrum of pathogenetic mutations (missense, splice site, insertion, and deletions) were identified in the MLC1 gene, enlarging the spectrum of allelic variants without a straightforward genotype-phenotype correlation. Five patients did not harbor mutations in MLC1, supporting the existence of at least one other MLC locus.

Original language	English
Pages (from-to)	534-537
Number of pages	4
Journal	Neurology
Volume	61
Issue number	4
Publication status	Published - Aug 26 2003

ASJC Scopus subject areas

Neuroscience(all)

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Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. / Patrono, C.; Di Giacinto, G.; Eymard-Pierre, E.; Santorelli, F. M.; Rodriguez, D.; De Stefano, N.; Federico, A.; Gatti, R.; Benigno, V.; Megarbané, A.; Tabarki, B.; Boespflug-Tanguy, O.; Bertini, E.

In: Neurology, Vol. 61, No. 4, 26.08.2003, p. 534-537.

Research output: Contribution to journal › Article › peer-review

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AU - Di Giacinto, G.

AU - Eymard-Pierre, E.

AU - Santorelli, F. M.

AU - Rodriguez, D.

AU - De Stefano, N.

AU - Federico, A.

AU - Gatti, R.

AU - Benigno, V.

AU - Megarbané, A.

AU - Tabarki, B.

AU - Boespflug-Tanguy, O.

AU - Bertini, E.

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AB - Reported are the clinical, neuroradiologic, and molecular findings in 18 patients with megalencephalic leukoencephalopathy and subcortical cysts (MLC) syndrome. Marked clinical intrafamilial and interfamilial variability in mutation-proven cases was found. A broad spectrum of pathogenetic mutations (missense, splice site, insertion, and deletions) were identified in the MLC1 gene, enlarging the spectrum of allelic variants without a straightforward genotype-phenotype correlation. Five patients did not harbor mutations in MLC1, supporting the existence of at least one other MLC locus.

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Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

Abstract

ASJC Scopus subject areas

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