A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity.

Hama, Yuka; Date, Hidetoshi; Fujimoto, Akiko; Matsui, Ayano; Ishiura, Hiroyuki; Mitsui, Jun; Yamamoto, Toshiyuki; Tsuji, Shoji; Mizusawa, Hidehiro; Takahashi, Yuji

Hama, Yuka; Date, Hidetoshi; Fujimoto, Akiko; Matsui, Ayano; Ishiura, Hiroyuki; Mitsui, Jun; Yamamoto, Toshiyuki; Tsuji, Shoji; Mizusawa, Hidehiro; Takahashi, Yuji.

Afiliação

Hama Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashimachi, Kodaira, Tokyo, 187-8551, Japan.
Date H; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashimachi, Kodaira, Tokyo, 187-8551, Japan.
Fujimoto A; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashimachi, Kodaira, Tokyo, 187-8551, Japan.
Matsui A; Department of Orthopedics, National Center of Neurology and Psychiatry, National Center Hospital, Kodaira, Japan.
Ishiura H; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Mitsui J; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Yamamoto T; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashimachi, Kodaira, Tokyo, 187-8551, Japan.
Tsuji S; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Mizusawa H; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashimachi, Kodaira, Tokyo, 187-8551, Japan.
Takahashi Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashimachi, Kodaira, Tokyo, 187-8551, Japan. yutakahashi@ncnp.go.jp.

Cerebellum ; 22(6): 1308-1311, 2023 Dec.

Article em En | MEDLINE | ID: mdl-36227410

Assuntos

Ataxia Cerebelar; Doenças Cerebelares; Deformidades do Pé; Deficiência Intelectual; Humanos; Deficiência Intelectual/complicações; Deficiência Intelectual/genética; Ataxia Cerebelar/genética; Mutação/genética; Mutação de Sentido Incorreto; Fenótipo; Cinesinas/genética

Palavras-chave

Ataxia; Foot deformity; Intellectual disability; KIF1A; Whole-exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deformidades do Pé / Ataxia Cerebelar / Doenças Cerebelares / Deficiência Intelectual Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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