PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India.

Nagappa, Madhu; Sharma, Shivani; Govindaraj, Periyasamy; Chickabasaviah, Yasha T; Siram, Ramesh; Shroti, Akhilesh; Debnath, Monojit; Sinha, Sanjib; Bindu, Parayil S; Taly, Arun B

Nagappa, Madhu; Sharma, Shivani; Govindaraj, Periyasamy; Chickabasaviah, Yasha T; Siram, Ramesh; Shroti, Akhilesh; Debnath, Monojit; Sinha, Sanjib; Bindu, Parayil S; Taly, Arun B.

Afiliación

Nagappa M; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India. madhu_nagappa@yahoo.co.in.
Sharma S; Neuromuscular Laboratory, Neurobiology Research Centre, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India. madhu_nagappa@yahoo.co.in.
Govindaraj P; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.
Chickabasaviah YT; Neuromuscular Laboratory, Neurobiology Research Centre, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.
Siram R; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.
Shroti A; Neuromuscular Laboratory, Neurobiology Research Centre, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.
Debnath M; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.
Sinha S; Neuromuscular Laboratory, Neurobiology Research Centre, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.
Bindu PS; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.
Taly AB; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.

J Mol Neurosci ; 70(5): 778-789, 2020 May.

Article en En | MEDLINE | ID: mdl-31993930

Asunto(s)

Enfermedades Desmielinizantes/genética; Proteínas de la Mielina/genética; Enfermedades del Sistema Nervioso Periférico/genética; Fenotipo; Polimorfismo Genético; Adolescente; Adulto; Factores de Edad; Anciano; Niño; Enfermedades Desmielinizantes/epidemiología; Enfermedades Desmielinizantes/patología; Femenino; Duplicación de Gen; Humanos; India; Masculino; Persona de Mediana Edad; Mutación; Enfermedades del Sistema Nervioso Periférico/epidemiología; Enfermedades del Sistema Nervioso Periférico/patología; Factores Sexuales

Palabras clave

Charcot-Marie-Tooth diseases; Deafness; Demyelinating neuropathies; PMP22 duplication; PMP22 mutation; Phenotype

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Polimorfismo Genético / Enfermedades Desmielinizantes / Enfermedades del Sistema Nervioso Periférico / Proteínas de la Mielina Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: J Mol Neurosci Asunto de la revista: BIOLOGIA MOLECULAR / NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: India

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google