De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy

Identification of mutations in the inverted formin-2 (INF2) gene in patients with Charcot-Marie-Tooth (CMT) disease combined with focal segmental glomerulosclerosis (FSGS) in order to expand the genetic and phenotypic spectrum.

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Veröffentlicht in:Neurology 2013-11, Vol.81 (22), p.1953-8
Hauptverfasser: Mademan, Inès, Deconinck, Tine, Dinopoulos, Argirios, Voit, Thomas, Schara, Ulrike, Devriendt, Koenraad, Meijers, Björn, Lerut, Evelyne, De Jonghe, Peter, Baets, Jonathan
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Sprache:eng
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Zusammenfassung:Identification of mutations in the inverted formin-2 (INF2) gene in patients with Charcot-Marie-Tooth (CMT) disease combined with focal segmental glomerulosclerosis (FSGS) in order to expand the genetic and phenotypic spectrum.
ISSN:0028-3878