A homoplasmic mitochondrial DNA variant (m.7472A>C) influences the phenotype of the pathogenic m.7472Cins MTTS1 mutation

被引：0

作者：

Swalwell, Helen ^{[1
]}

Blakely, E. L. ^{[1
]}

Davidson, M. M. ^{[2
]}

Sutton, R. ^{[1
]}

Tonska, K. ^{[1
]}

Elstner, M. ^{[1
]}

He, L. ^{[1
]}

Taivassalo, T. ^{[3
]}

Tumbull, D. M. ^{[1
]}

Haller, R. G. ^{[4
]}

Taylor, R. W. ^{[1
]}

机构：

[1] Mitochondrial Res Grp, Newcastle Upon Tyne, Tyne & Wear, England

[2] Columbia Univ, Dept Neurol, New York, NY 10027 USA

[3] McGill Univ, Dept Kinesiol, Montreal, PQ, Canada

[4] Inst Exercise & Environm Med, Neuromuscular Ctr, Dallas, TX USA

来源：

JOURNAL OF MEDICAL GENETICS | 2007年 / 44卷

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：S18 / S18

页数：1

共 8 条

[1] A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?
Helen Swalwell
Emma L Blakely
Ruth Sutton
Kasia Tonska
Matthias Elstner
Langping He
Tanja Taivassalo
Dennis K Burns
Douglass M Turnbull
Ronald G Haller
Mercy M Davidson
Robert W Taylor
European Journal of Human Genetics, 2008, 16 : 1265 - 1274
[2] A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation:: are two mutations better than one?
Swalwell, Helen
Blakely, Emma L.
Sutton, Ruth
Tonska, Kasia
Elstner, Matthias
He, Langping
Taivassalo, Tanja
Burns, Dennis K.
Turnbull, Douglass M.
Haller, Ronald G.
Davidson, Mercy M.
Taylor, Robert W.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2008, 16 (10) : 1265 - 1274
[3] The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype
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NEUROMUSCULAR DISORDERS, 2010, 20 (06) : 403 - 406
[4] Is Mitochondrial tRNAphe Variant m.593T>C a Synergistically Pathogenic Mutation in Chinese LHON Families with m. 11778G>A?
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PLOS ONE, 2011, 6 (10):
[5] The m.5650G > A mitochondrial tRNAA1a mutation is pathogenic and causes a phenotype of pure myopathy
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Groen, Emma J.
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NEUROMUSCULAR DISORDERS, 2008, 18 (01) : 63 - 67
[6] A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay
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JOURNAL OF HUMAN GENETICS, 2024, 69 (08) : 381 - 389
[7] Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1
Darin, N.
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EUROPEAN JOURNAL OF NEUROLOGY, 2017, 24 (04) : 587 - 593
[8] A novel homoplasmic mitochondrial DNA mutation (m.13376T > C, p.1347T) of MELAS presenting characteristic medial temporal lobe atrophy
Sasaki, Ryo
Ohta, Yasuyuki
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Tadokoro, Koh
Nomura, Emi
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Takemoto, Mami
Hishikaw, Nozomi
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Wada, Jun
Goto, Yu-ichi
Abe, Koji
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2020, 408

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A homoplasmic mitochondrial DNA variant (m.7472A&gt;C) influences the phenotype of the pathogenic m.7472Cins MTTS1 mutation

A homoplasmic mitochondrial DNA variant (m.7472A>C) influences the phenotype of the pathogenic m.7472Cins MTTS1 mutation