Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations.

Khani, Marzieh; Shamshiri, Hosein; Alavi, Afagh; Nafissi, Shahriar; Elahi, Elahe

Khani, Marzieh; Shamshiri, Hosein; Alavi, Afagh; Nafissi, Shahriar; Elahi, Elahe.

Khani M; School of Biology, College of Science, University of Tehran, Tehran, Iran.
Shamshiri H; Dept. of Neurology, Tehran University of Medical Sciences, Tehran, Iran.
Alavi A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Nafissi S; Dept. of Neurology, Tehran University of Medical Sciences, Tehran, Iran.
Elahi E; School of Biology, College of Science, University of Tehran, Tehran, Iran; Dept. of Biotechnology, College of Science, University of Tehran, Tehran, Iran. Electronic address: elaheelahi@ut.ac.ir.

J Neurol Sci ; 369: 318-323, 2016 Oct 15.

Article en En | MEDLINE | ID: mdl-27653917

Asunto(s)

Neuropatía Hereditaria Motora y Sensorial/genética; Neuropatía Hereditaria Motora y Sensorial/patología; Mutación/genética; Linaje; Proteínas/genética; Adulto; Enfermedad de Charcot-Marie-Tooth/genética; Análisis Mutacional de ADN; Femenino; Ligamiento Genético; Haplotipos; Humanos; Irán; Imagen por Resonancia Magnética; Masculino; Músculo Esquelético/diagnóstico por imagen; Adulto Joven

Palabras clave

HMSN-P; Hereditary motor and sensory neuropathy with proximal predominance; Neuronopathy; TFG; p.Gly269Val

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Linaje / Neuropatía Hereditaria Motora y Sensorial / Proteínas / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male País como asunto: Asia Idioma: En Año: 2016 Tipo del documento: Article

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