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Clinical Phenotype and Segregation of Mitochondrial 3243A>G Mutation in 2 Pairs of Monozygotic Twins
Author(s) -
Kengo Maeda,
Hiromichi Kawai,
Mitsuru Sanada,
Tomoya Terashima,
Nobuhiro Ogawa,
Ryo Idehara,
Tetsuya Makiishi,
Hitoshi Yasuda,
Shunichi Sato,
Kenichi Hoshi,
Hiroyuki Yahikozawa,
Katsuji Nishi,
Yasushi Itoh,
Kazumasa Ogasawara,
Kazuo Tomita,
Hiroko P. Indo,
Hideyuki J. Majima
Publication year - 2016
Publication title -
jama neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.298
H-Index - 231
eISSN - 2168-6157
pISSN - 2168-6149
DOI - 10.1001/jamaneurol.2016.0886
Subject(s) - heteroplasmy , mitochondrial encephalomyopathy , mitochondrial dna , mitochondrial disease , lactic acidosis , monozygotic twin , biology , genetics , melas syndrome , mutation , nuclear dna , mitochondrial myopathy , endocrinology , gene
The regulatory factors explaining the wide spectrum of clinical phenotypes for mitochondrial 3243A>G mutation are not known. Crosstalk between nuclear genes and mitochondrial DNA might be one factor.

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