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Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics ; (12): 851-855, 2019.
Artigo em Chinês | WPRIM | ID: wpr-775094
ABSTRACT
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease. Two boys aged 3 years and 4 years and 2 months respectively, were admitted to the hospital due to delayed mental and motor development. There were no abnormalities at birth, and both children had low muscle strength and tension on admission. One child was not able to stand alone and had impaired vision. Electromyography showed neurogenic damage, and head MRI revealed cerebellar atrophy. High-throughput sequencing revealed compound heterozygous mutations in the PLA2G6 gene in the two children. The mutations (IVS11-1G>T and c.1984C>G) in one child were new mutations, and immunohistochemistry showed a reduction in the protein expression of PLAG6 in the muscular tissue of this child. INAD has the main clinical manifestations of psychomotor developmental regression and cerebellar atrophy. High-throughput sequencing can help with clinical diagnosis.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Imageamento por Ressonância Magnética / Distrofias Neuroaxonais / Doenças Neurodegenerativas / Fosfolipases A2 do Grupo VI / Genética / Mutação Limite: Criança, pré-escolar / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Contemporary Pediatrics Ano de publicação: 2019 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Imageamento por Ressonância Magnética / Distrofias Neuroaxonais / Doenças Neurodegenerativas / Fosfolipases A2 do Grupo VI / Genética / Mutação Limite: Criança, pré-escolar / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Contemporary Pediatrics Ano de publicação: 2019 Tipo de documento: Artigo