A female case report of LGMD2B with compound heterozygous mutations of the <i>DYSF</i> gene and asymptomatic mutation of the X-linked <i>DMD</i> gene.

Cao, Xiaojie; Zeng, Li; Lu, Zhijie; Fan, Jin; Tan, Song; Zhang, Mingjie; Yin, Zegang

A female case report of LGMD2B with compound heterozygous mutations of the DYSF gene and asymptomatic mutation of the X-linked DMD gene.

Cao, Xiaojie; Zeng, Li; Lu, Zhijie; Fan, Jin; Tan, Song; Zhang, Mingjie; Yin, Zegang.

Afiliación

Cao X; Department of Neurology, The General Hospital of Western Theater Command, Chengdu, Sichuan Province, China.
Zeng L; Department of Neurology, Sichuan Academy of Medical Science and Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan Province, China.
Lu Z; Department of Neurology, The General Hospital of Western Theater Command, Chengdu, Sichuan Province, China.
Fan J; Department of Neurology, The General Hospital of Western Theater Command, Chengdu, Sichuan Province, China.
Tan S; Department of Neurology, Sichuan Academy of Medical Science and Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan Province, China.
Zhang M; Department of Neurology, The General Hospital of Western Theater Command, Chengdu, Sichuan Province, China.
Yin Z; Department of Neurology, The General Hospital of Western Theater Command, Chengdu, Sichuan Province, China.

Front Neurol ; 14: 1213090, 2023.

Article en En | MEDLINE | ID: mdl-37830096

Palabras clave

DMD/BMD; DYSF gene; LGMD; case report; dysferlin; dysferlinopathy

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Texto completo: 1 Colección: 01-internacional Idioma: En Revista: Front Neurol Año: 2023 Tipo del documento: Article País de afiliación: China

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Texto completo: 1 Colección: 01-internacional Idioma: En Revista: Front Neurol Año: 2023 Tipo del documento: Article País de afiliación: China