NOTCH2NLC-related oculopharyngodistal myopathy type 3 with cardiomyopathy and nephropathy.

Gu, Xinyu; Yue, Dongyue; Qiao, Kai; Huang, Guoqian; Zhu, Wenhua; Xi, Jianying; Zhu, Hui

Gu, Xinyu; Yue, Dongyue; Qiao, Kai; Huang, Guoqian; Zhu, Wenhua; Xi, Jianying; Zhu, Hui.

Afiliación

Gu X; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Yue D; Department of Neurology, Jing'an District Center Hospital of Shanghai, Shanghai, China.
Qiao K; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Huang G; Department of Cardiology, Huashan Hospital, Fudan University, Shanghai, China.
Zhu W; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Xi J; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Zhu H; Department of Cardiology, Huashan Hospital, Fudan University, Shanghai, China.

Muscle Nerve ; 67(5): E18-E21, 2023 05.

Article en En | MEDLINE | ID: mdl-36840947

Asunto(s)

Cardiomiopatías; Enfermedades Renales; Distrofias Musculares; Distrofia Muscular Oculofaríngea; Humanos; Cardiomiopatías/complicaciones; Cardiomiopatías/diagnóstico por imagen; Enfermedades Renales/genética; Distrofias Musculares/genética; Distrofia Muscular Oculofaríngea/genética

Palabras clave

NOTCH2NLC; cardiomyopathy; neuromuscular disorder; oculopharyngodistal myopathy

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofia Muscular Oculofaríngea / Enfermedades Renales / Distrofias Musculares / Cardiomiopatías Límite: Humans Idioma: En Revista: Muscle Nerve Año: 2023 Tipo del documento: Article País de afiliación: China

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