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An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report.
Dong, Qing; Long, Ling; Chang, Yan-Yu; Lin, Yan-Jun; Liu, Mei; Lu, Zheng-Qi.
Afiliação
  • Dong Q; Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, No. 600 Tianhe Road, Guangzhou, 510630, China.
  • Long L; Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, No. 600 Tianhe Road, Guangzhou, 510630, China.
  • Chang YY; Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, No. 600 Tianhe Road, Guangzhou, 510630, China.
  • Lin YJ; Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, No. 600 Tianhe Road, Guangzhou, 510630, China.
  • Liu M; Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, No. 600 Tianhe Road, Guangzhou, 510630, China.
  • Lu ZQ; Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, No. 600 Tianhe Road, Guangzhou, 510630, China. LuZQ_zssy@163.com.
J Hum Genet ; 63(7): 841-846, 2018 Jul.
Article em En | MEDLINE | ID: mdl-29666464
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Cerebelares / Alanina-tRNA Ligase / Leucoencefalopatias / Mutação Limite: Adolescent / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Cerebelares / Alanina-tRNA Ligase / Leucoencefalopatias / Mutação Limite: Adolescent / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China