Novel mutation in KIF5A gene associated with hereditary motor and sensory neuropathy and cognitive impairment: a case report and literature review.

Hong, Uichan; Lee, Jinsik; Choi, Seohee; Jang, Woori; Kwon, Soonwook

Hong, Uichan; Lee, Jinsik; Choi, Seohee; Jang, Woori; Kwon, Soonwook.

Afiliação

Hong U; Department of Neurology, Inha University Hospital, 27 Inhang-Ro, Jung-Gu, Incheon, 22332, Korea.
Lee J; Department of Neurology, Inha University Hospital, 27 Inhang-Ro, Jung-Gu, Incheon, 22332, Korea.
Choi S; Department of Neurology, Inha University Hospital, 27 Inhang-Ro, Jung-Gu, Incheon, 22332, Korea.
Jang W; Department of Laboratory Medicine, College of Medicine, Inha University, Incheon, Korea.
Kwon S; Department of Neurology, Inha University Hospital, 27 Inhang-Ro, Jung-Gu, Incheon, 22332, Korea. ksw_ever@naver.com.

Acta Neurol Belg ; 123(6): 2375-2377, 2023 12.

Article em En | MEDLINE | ID: mdl-36696008

Assuntos

Doença de Charcot-Marie-Tooth; Disfunção Cognitiva; Neuropatia Hereditária Motora e Sensorial; Humanos; Doença de Charcot-Marie-Tooth/genética; Mutação/genética; Disfunção Cognitiva/genética; Cinesinas/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropatia Hereditária Motora e Sensorial / Doença de Charcot-Marie-Tooth / Disfunção Cognitiva Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Acta Neurol Belg Ano de publicação: 2023 Tipo de documento: Article

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