From writer's cramp to blepharoclonus: An atypical journey with a novel KMT2B variant.

Makharia, Archita; Garg, Divyani; Agarwal, Ayush; Radhakrishnan, Divya M; Pandit, Awadh Kishor; Srivastava, Achal Kumar

Makharia, Archita; Garg, Divyani; Agarwal, Ayush; Radhakrishnan, Divya M; Pandit, Awadh Kishor; Srivastava, Achal Kumar.

Afiliación

Makharia A; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Garg D; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India. Electronic address: divyanig@gmail.com.
Agarwal A; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Radhakrishnan DM; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Pandit AK; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Srivastava AK; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

Parkinsonism Relat Disord ; 126: 107076, 2024 Sep.

Article en En | MEDLINE | ID: mdl-39068760

Asunto(s)

Trastornos Distónicos; N-Metiltransferasa de Histona-Lisina; Humanos; Trastornos Distónicos/genética; Trastornos Distónicos/fisiopatología; N-Metiltransferasa de Histona-Lisina/genética; Masculino; Proteína de la Leucemia Mieloide-Linfoide/genética; Femenino; Persona de Mediana Edad; Adulto

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: N-Metiltransferasa de Histona-Lisina / Trastornos Distónicos Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Parkinsonism Relat Disord Asunto de la revista: NEUROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido

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