Novel compound heterozygous mutations of LAMA2-limb-girdle muscular dystrophy: A case report and literature review.

Wang, Duo-Zi; Li, Bing-Hu; Ma, Qiong; Yu, Zhou; Chen, Kai; He, Ying; Tan, Song

Wang, Duo-Zi; Li, Bing-Hu; Ma, Qiong; Yu, Zhou; Chen, Kai; He, Ying; Tan, Song.

Afiliação

Wang DZ; Department of Neurology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Li BH; Department of Neurology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Ma Q; Department of Neurology, The First People's Hospital of Liangshan in Yi Autonomous Prefecture, Xichang, China.
Yu Z; Department of Psychosomatic Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Chen K; Department of Neurology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
He Y; Department of Psychosomatic Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Tan S; Department of Neurology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.

Front Neurol ; 14: 1078151, 2023.

Article em En | MEDLINE | ID: mdl-36860576

Palavras-chave

LAMA2; LGMDR23; MDC1A; case report; limb-girdle muscular dystrophy; merosin

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Neurol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China País de publicação: Suíça

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