A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease.

Zis, Panagiotis; Reilly, Mary M; Rao, Dasappaiah G; Tomaselli, Pedro; Rossor, Alex M; Hadjivassiliou, Marios

Zis, Panagiotis; Reilly, Mary M; Rao, Dasappaiah G; Tomaselli, Pedro; Rossor, Alex M; Hadjivassiliou, Marios.

Afiliação

Zis P; Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust.
Reilly MM; University of Sheffield.
Rao DG; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK.
Tomaselli P; Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust.
Rossor AM; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK.
Hadjivassiliou M; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK.

J Peripher Nerv Syst ; 22(3): 224-225, 2017 09.

Article em En | MEDLINE | ID: mdl-28543957

Assuntos

Doença de Charcot-Marie-Tooth/diagnóstico; Proteínas dos Microfilamentos/genética; Doença de Charcot-Marie-Tooth/genética; Doença de Charcot-Marie-Tooth/fisiopatologia; Feminino; Humanos; Pessoa de Meia-Idade; Mutação

Palavras-chave

CMT; FGD4 gene; mutation; neuropathy

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Proteínas dos Microfilamentos Limite: Female / Humans / Middle aged Idioma: En Revista: J Peripher Nerv Syst Assunto da revista: NEUROLOGIA Ano de publicação: 2017 Tipo de documento: Article

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