Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.

Zambon, Alberto Andrea; Natali Sora, Maria Grazia; Cantarella, Giovanna; Cerri, Federica; Quattrini, Angelo; Comi, Giancarlo; Previtali, Stefano Carlo; Bolino, Alessandra

Zambon, Alberto Andrea; Natali Sora, Maria Grazia; Cantarella, Giovanna; Cerri, Federica; Quattrini, Angelo; Comi, Giancarlo; Previtali, Stefano Carlo; Bolino, Alessandra.

Afiliação

Zambon AA; Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy. Electronic address: zambon.alberto@hsr.it.
Natali Sora MG; Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.
Cantarella G; Otolaryngology Department, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, Milan, Italy.
Cerri F; Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy; Experimental Neuropathology Unit, INSPE and Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.
Quattrini A; Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy; Experimental Neuropathology Unit, INSPE and Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.
Comi G; Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.
Previtali SC; Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy; Neuromuscular Repair Unit, INSPE and Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.
Bolino A; Human Inherited Neuropathies Unit, INSPE and Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.

Neuromuscul Disord ; 27(5): 487-491, 2017 May.

Article em En | MEDLINE | ID: mdl-28190646

Assuntos

Doença de Charcot-Marie-Tooth/complicações; Doença de Charcot-Marie-Tooth/genética; Mutação; Proteínas Tirosina Fosfatases não Receptoras/genética; Paralisia das Pregas Vocais/etiologia; Paralisia das Pregas Vocais/genética; Doença de Charcot-Marie-Tooth/patologia; Doença de Charcot-Marie-Tooth/fisiopatologia; Diagnóstico Diferencial; Feminino; Humanos; Lactente; Fenótipo; Paralisia das Pregas Vocais/patologia; Paralisia das Pregas Vocais/fisiopatologia

Palavras-chave

Autosomal recessive neuropathy; CMT4B1; MTMR2; Vocal cord palsy; Vocal fold laterofixation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Paralisia das Pregas Vocais / Proteínas Tirosina Fosfatases não Receptoras / Mutação Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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