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

Wiethoff, Sarah; Xiromerisiou, Georgia; Bettencourt, Conceição; Kioumi, Anna; Tsiptsios, Iakovos; Tychalas, Athanasios; Evaggelia, Markousi; George, Kaltsounis; Makris, Vasileios; Hardy, John; Houlden, Henry

Wiethoff, Sarah; Xiromerisiou, Georgia; Bettencourt, Conceição; Kioumi, Anna; Tsiptsios, Iakovos; Tychalas, Athanasios; Evaggelia, Markousi; George, Kaltsounis; Makris, Vasileios; Hardy, John; Houlden, Henry.

Afiliación

Wiethoff S; Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Xiromerisiou G; Department of Neurology, Papageorgiou Hospital, Thessaloniki, Greece.
Bettencourt C; Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. Electronic address: c.bettencourt@ucl
Kioumi A; Department of Haematology, Papageorgiou Hospital, Thessaloniki, Greece.
Tsiptsios I; Department of Neurology, Papageorgiou Hospital, Thessaloniki, Greece.
Tychalas A; Department of Neurology, Papageorgiou Hospital, Thessaloniki, Greece.
Evaggelia M; Department of Neurology, Papageorgiou Hospital, Thessaloniki, Greece.
George K; Department of Haematology, Papageorgiou Hospital, Thessaloniki, Greece.
Makris V; Orthopedic Department, Papageorgiou Hospital, Thessaloniki, Greece.
Hardy J; Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Houlden H; Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

J Neurol Sci ; 339(1-2): 220-2, 2014 Apr 15.

Article en En | MEDLINE | ID: mdl-24529944

Asunto(s)

Sistemas de Transporte de Aminoácidos Neutros/genética; Eliminación de Gen; Atrofia Muscular/genética; Neuroacantocitosis/genética; Enfermedades del Sistema Nervioso Periférico/genética; Anciano; Secuencia de Aminoácidos; Emparejamiento Base; Exones/genética; Hemólisis/genética; Humanos; Masculino; Datos de Secuencia Molecular; Atrofia Muscular/complicaciones; Atrofia Muscular/diagnóstico; Neuroacantocitosis/complicaciones; Neuroacantocitosis/diagnóstico; Linaje; Enfermedades del Sistema Nervioso Periférico/complicaciones; Enfermedades del Sistema Nervioso Periférico/diagnóstico

Palabras clave

Acanthocytosis; Chorea; Frameshift deletion; McLeod syndromes; Non-CGD; Novel mutation; XK gene

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Atrofia Muscular / Eliminación de Gen / Enfermedades del Sistema Nervioso Periférico / Sistemas de Transporte de Aminoácidos Neutros / Neuroacantocitosis Tipo de estudio: Diagnostic_studies Límite: Aged / Humans / Male Idioma: En Revista: J Neurol Sci Año: 2014 Tipo del documento: Article País de afiliación: Reino Unido

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