Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in <i>PANK2</i> gene in a Chinese patient: a case report and literature review.

Tao, Yilun; Zhao, Chen; Han, Dong; Wei, Yiju; Wang, Lihong; Song, Wenxia; Li, Xiaoze

Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review.

Tao, Yilun; Zhao, Chen; Han, Dong; Wei, Yiju; Wang, Lihong; Song, Wenxia; Li, Xiaoze.

Afiliação

Tao Y; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
Zhao C; Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
Han D; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
Wei Y; School of Life Sciences, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China.
Wang L; Medical Science and Technology Innovation Center, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China.
Song W; Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
Li X; Obstetrics Department, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.

Front Neurol ; 14: 1170557, 2023.

Article em En | MEDLINE | ID: mdl-37188304

Palavras-chave

PANK2 gene; case report; pantothenate kinase-associated neurodegeneration; review; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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