Article
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Human mutation - 1 Apr 2010
Steenweg Marjan E, Jakobs Cornelis, Errami Abdellatif, van Dooren Silvy J M, Adeva Bartolomé Maria T, Aerssens Peter, Augoustides-Savvapoulou Persephone, Baric Ivo, Baumann Matthias, Bonafé Luisa, Chabrol Brigitte, Clarke Joe T R, Clayton Peter, Coker Mahmut, Cooper Sarah, Falik-Zaccai Tzipora, Gorman Mark, Hahn Andreas, Hasanoglu Alev, King Mary D, de Klerk Hans B C, Korman Stanley H, Lee Céline, Meldgaard Lund Allan, Mejaski-Bosnjak Vlatka, Pascual-Castroviejo Ignacio, Raadhyaksha Aparna, Rootwelt Terje, Roubertie Agathe, Ruiz-Falco Maria L, Scalais Emmanuel, Schimmel Ulf, Seijo-Martinez Manuel, Suri Mohnish, Sykut-Cegielska Jolanta, Trefz Friedrich K, Uziel Graziella, Valayannopoulos Vassili, Vianey-Saban Christine, Vlaho Stefan, Vodopiutz Julia, Wajner Moacir, Walter John, Walter-Derbort Claudia, Yapici Zuhal, Zafeiriou Dimitrios I, Spreeuwenberg Marieke D, Celli Jacopo, den Dunnen Johan T, van der Knaap Marjo S, Salomons Gajja S
Abstract excerpt
L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, neurometabolic disorder with an autosomal recessive mode of inheritance. Affected individuals only have neurological manifestations, including psychomotor retardation, cerebellar ataxia, and more variably macrocephaly, or epilepsy. The diagnosis of...
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