Intra-familial phenotypic heterogeneity of m.3243A > G carriers remains elusive as long as heteroplasmy and mtDNA copy numbers are absent.
作者信息
Finsterer Josef
机构信息
Neurology and Neurophysiology Center, Postfach 20, 1180 Vienna, Austria.
出版信息
Eur Heart J Case Rep. 2023 Mar 27;7(5):ytad149. doi: 10.1093/ehjcr/ytad149. eCollection 2023 May.
Abstract
摘要
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引用本文的文献
1
Intra-familial phenotypic heterogeneity of m.3243A>G carriers remains elusive as long as heteroplasmy and mtDNA copy numbers are absent: reply.
Eur Heart J Case Rep. 2023 Apr 24;7(5):ytad217. doi: 10.1093/ehjcr/ytad217. eCollection 2023 May.
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Bilateral deafness, diabetes, and different types of cardiomyopathy in family members with m.3243A > g mutation: a case report.
Eur Heart J Case Rep. 2023 Feb 15;7(2):ytad073. doi: 10.1093/ehjcr/ytad073. eCollection 2023 Feb.
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Clinical Perspectives of Mitochondrial Disorders.
Pediatr Endocrinol Rev. 2018 Sep;16(1):203-208. doi: 10.17458/per.vol16.2018.f.mitochondrialdisorders.
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