Three Patients With Lafora Disease: Different Clinical Presentations and a Novel Mutation

Lafora disease is a rare, fatal, autosomal recessive hereditary disease characterized by epilepsy, myoclonus and progressive neurological deterioration. Diagnosis is made by polyglucosan inclusion bodies (Lafora bodies) shown in skin biopsy. Responsible mutations of Lafora disease involves either th...

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Veröffentlicht in:	Journal of child neurology 2015-05, Vol.30 (6), p.777-781
Hauptverfasser:	Poyrazoğlu, Hatice Gamze, Karaca, Emin, Per, Hüseyin, Gümüs, Hakan, Onay, Huseyin, Canpolat, Mehmet, Canöz, Özlem, Ozkınay, Ferda, Kumandas, Sefer
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Carrier Proteins - genetics Female Genetic Predisposition to Disease Homozygote Humans Lafora Disease - genetics Male Mutation Protein Tyrosine Phosphatases, Non-Receptor - genetics
Online-Zugang:	Volltext
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