Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.

Tomaselli, Pedro J; Rossor, Alexander M; Polke, James M; Poh, Roy; Blake, Julian; Reilly, Mary M

Tomaselli, Pedro J; Rossor, Alexander M; Polke, James M; Poh, Roy; Blake, Julian; Reilly, Mary M.

Afiliação

Tomaselli PJ; MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.
Rossor AM; MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.
Polke JM; Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.
Poh R; Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.
Blake J; MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.
Reilly MM; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.

J Peripher Nerv Syst ; 21(1): 52-4, 2016 Mar.

Article em En | MEDLINE | ID: mdl-26930221

Assuntos

Doença de Charcot-Marie-Tooth/genética; Aconselhamento Genético; GTP Fosfo-Hidrolases/genética; Humanos; Proteínas de Membrana/genética; Proteínas Mitocondriais/genética; Mutação; Fenótipo

Palavras-chave

Charcot-Marie-Tooth disease; Mitofusin 2; dominant; recessive; semi-dominant

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Aconselhamento Genético Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google