Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis

We present a 70-year-old male patient of Greek origin with choreatic movements of the tongue and face, lower limb muscle weakness, peripheral neuropathy, elevated creatinephosphokinase (CPK), acanthocytosis and haemolysis in the absence of Kell RBC antigens with an additional Factor IX-deficiency. G...

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Detalles Bibliográficos
Autores principales: Wiethoff, Sarah, Xiromerisiou, Georgia, Bettencourt, Conceição, Kioumi, Anna, Tsiptsios, Iakovos, Tychalas, Athanasios, Evaggelia, Markousi, George, Kaltsounis, Makris, Vasileios, Hardy, John, Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988988/
https://www.ncbi.nlm.nih.gov/pubmed/24529944
http://dx.doi.org/10.1016/j.jns.2014.01.034

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988988/
https://www.ncbi.nlm.nih.gov/pubmed/24529944
http://dx.doi.org/10.1016/j.jns.2014.01.034

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