Novel GFM2 variants identified in two cases of early-onset mitochondrial disease cause impaired expression of mtDNA encoded OXPHOS subunits

被引：0

作者：

Glasgow, R. I. C. ^{[1
]}

Thompson, K. ^{[1
]}

He, L. ^{[1
]}

Alston, C. L. ^{[1
]}

Barbosa, I. A. ^{[2
]}

Deshpande, C. ^{[2
]}

Simpson, M. A. ^{[2
]}

Neu, A. ^{[3
]}

Loebel, U. ^{[4
]}

Prokisch, H. ^{[5
,6
]}

Haack, T. B. ^{[5
,6
]}

Hempel, M. ^{[7
]}

McFarland, R. ^{[1
]}

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

机构：

[1] Newcastle Univ, Wellcome Trust Ctr Mitochondrial Dis, Newcastle Upon Tyne, Tyne & Wear, England

[2] Kings Coll London, Div Genet & Mol Med, Sch Med, London, England

[3] Univ Med Ctr Hamburg Eppendorf, Univ Childrens Hosp, Hamburg, Germany

[4] Univ Med Ctr Hamburg Eppendorf, Dept Diagnost & Intervent Neuroradiol, Hamburg, Germany

[5] Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany

[6] Tech Univ Munich, Inst Human Genet, Munich, Germany

[7] Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany

来源：

NEUROMUSCULAR DISORDERS | 2017年 / 27卷

关键词：

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

M17

引用

页码：S22 / S22

页数：1

共 4 条

[1] Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Glasgow, Ruth I. C.
Thompson, Kyle
Barbosa, Ines A.
He, Langping
Alston, Charlotte L.
Deshpande, Charu
Simpson, Michael A.
Morris, Andrew A. M.
Neu, Axel
Loebel, Ulrike
Hall, Julie
Prokisch, Holger
Haack, Tobias B.
Hempel, Maja
McFarland, Robert
Taylor, Robert W.
NEUROGENETICS, 2017, 18 (04) : 227 - 235
[2] Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Ruth I. C. Glasgow
Kyle Thompson
Inês A. Barbosa
Langping He
Charlotte L. Alston
Charu Deshpande
Michael A. Simpson
Andrew A. M. Morris
Axel Neu
Ulrike Löbel
Julie Hall
Holger Prokisch
Tobias B. Haack
Maja Hempel
Robert McFarland
Robert W. Taylor
neurogenetics, 2017, 18 : 227 - 235
[3] Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease
Rick Kamps
Radek Szklarczyk
Tom E. Theunissen
Debby M. E. I. Hellebrekers
Suzanne C. E. H. Sallevelt
Iris B. Boesten
Bart de Koning
Bianca J. van den Bosch
Gajja S. Salomons
Marisa Simas-Mendes
Rob Verdijk
Kees Schoonderwoerd
Irenaeus F. M. de Coo
Jo M. Vanoevelen
Hubert J. M. Smeets
European Journal of Human Genetics, 2018, 26 : 537 - 551
[4] Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease
Kamps, Rick
Szklarczyk, Radek
Theunissen, Tom E.
Hellebrekers, Debby M. E. I.
Sallevelt, Suzanne C. E. H.
Boesten, Iris B.
de Koning, Bart
van den Bosch, Bianca J.
Salomons, Gajja S.
Simas-Mendes, Marisa
Verdijk, Rob
Schoonderwoerd, Kees
de Coo, Irenaeus F. M.
Vanoevelen, Jo M.
Smeets, Hubert J. M.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 (04) : 537 - 551

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