Two patients with congenital myasthenic syndrome caused by <i>COLQ</i> gene mutations and the consequent ColQ protein defect.

Zhang, Qiting; Sha, Qianqian; Qiao, Kai; Liu, Xiaoli; Gong, Xiaohui; Du, Ailian

Two patients with congenital myasthenic syndrome caused by COLQ gene mutations and the consequent ColQ protein defect.

Zhang, Qiting; Sha, Qianqian; Qiao, Kai; Liu, Xiaoli; Gong, Xiaohui; Du, Ailian.

Afiliación

Zhang Q; Department of Neurology, Tongren Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200336, China.
Sha Q; Department of Neurology, Tongren Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200336, China.
Qiao K; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China.
Liu X; Department of Neurology, Shanghai Fengxian District Central Hospital, Shanghai Jiao Tong University Affiliated Sixth People's Hospital South Campus, Shanghai, 201406, China.
Gong X; Department of Neonatology, Shanghai Children's Hospital, Shanghai, 200062, China.
Du A; Department of Neurology, Tongren Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200336, China.

Heliyon ; 9(2): e13272, 2023 Feb.

Article en En | MEDLINE | ID: mdl-36798769

Palabras clave

3D structure prediction; COLQ gene; Congenital myasthenic syndrome (CMS); Next-generation sequencing (NGS); Truncated protein

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Heliyon Año: 2023 Tipo del documento: Article País de afiliación: China

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