Three families with 'de novo' m.3243A > G mutation.

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作者： Paul,de Laat ^[1] ; Mirian C H,Janssen ^[2] ; Charlotte L,Alston ^[3] ; Robert W,Taylor ^[3] ; Richard J T,Rodenburg ^[1] ; Jan A M,Smeitink ^[1]

作者单位： Radboud University Medical Center Amalia Children's Hospital, Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands. ^[1] Radboud University Medical Center Amalia Children's Hospital, Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands; Radboud University Medical Center, Department of Internal Medicine, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands. ^[2] Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK. ^[3]

关键词 Genetic counselling Inheritance MELAS, mitochondrial myopathy, encephalopathy, lactate acidosis and stroke-like episodes MERRF, myoclonic epilepsy with ragged-red fibres MIDD, maternally inherited diabetes and deafness Maternally inherited diabetes and deafness (MIDD)Mitochondrial myopathy, encephalopathy, lactate acidosis and stroke-like episodes (MELAS)m.3243A?>?G mutation mtDNA, mitochondrial DNA

DOI 10.1016/j.bbacli.2016.04.007

PMID 27331024

发布时间 2022-01-29

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BBA clinical

2016年6卷

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Three families with 'de novo' m.3243A > G mutation.

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Three families with 'de novo' m.3243A &gt; G mutation.

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Three families with 'de novo' m.3243A > G mutation.