Early-onset chronic axonal neuropathy, strokes, and hemolysis: Inherited CD59 deficiency

OBJECTIVE:To identify the underlying etiology of 3 patients in a multiplex family with strokes, chronic immune-mediated peripheral neuropathy, and hemolysis. All had onset in infancy. METHODS:We performed genome-wide linkage analysis followed by whole exome sequencing (WES) in the proband, Sanger se...

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Veröffentlicht in:	Neurology 2015-03, Vol.84 (12), p.1220-1224
Hauptverfasser:	Haliloglu, Goknur, Maluenda, Jérome, Sayinbatur, Bahattin, Aumont, Cedric, Temucin, Cagri, Tavil, Betul, Cetin, Mualla, Oguz, Kader K, Gut, Ivo, Picard, Veronique, Melki, Judith, Topaloglu, Haluk
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Age of Onset Anemia, Hemolytic - complications Anemia, Hemolytic - genetics Anemia, Hemolytic - physiopathology Autoimmune Diseases of the Nervous System - etiology Autoimmune Diseases of the Nervous System - genetics CD59 Antigens - genetics Child Child, Preschool Female Hemoglobinuria - complications Hemoglobinuria - genetics Hemoglobinuria - physiopathology Hemolysis - genetics Humans Male Mutation, Missense Pedigree Polymorphism, Single Nucleotide Stroke - etiology Stroke - genetics Turkey
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