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[Clinical practice guidelines for Leber's hereditary optic neuropathy].
Jiang, Pingping; Wang, Jianyong; Gu, Yangshun; Guan, Minxin.
Afiliação
  • Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association; Division of Medical Genetics and Genomics, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310012, China. gminxin88@zju.edu.cn.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(3): 284-288, 2020 Mar 10.
Article em Zh | MEDLINE | ID: mdl-32128745
Leber's hereditary optic neuropathy (LHON) is a genetic disease featuring maternal inheritance. mtDNA m.11778G>A, m.14484T>C and m.3460G>A mutations are its main molecular basis, but the disease is also affected by nuclear genes, genetic background of mtDNA and environmental factors. By referring to basic and clinical research in the related fields at home and abroad, guidelines and consensus issued by other countries, and combined with data from the Chinese population, this guideline aims to summarize the genetics knowledge and clinical treatment of LHON, with an aim to improve the clinical diagnosis and standardize the clinical management of patients.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Guias de Prática Clínica como Assunto / Atrofia Óptica Hereditária de Leber Tipo de estudo: Guideline Limite: Humans País como assunto: Asia Idioma: Zh Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Guias de Prática Clínica como Assunto / Atrofia Óptica Hereditária de Leber Tipo de estudo: Guideline Limite: Humans País como assunto: Asia Idioma: Zh Ano de publicação: 2020 Tipo de documento: Article