Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

被引：0

作者：

Clare V Logan

Barbara Lucke

Caroline Pottinger

Zakia A Abdelhamed

David A Parry

Katarzyna Szymanska

Christine P Diggle

Anne van Riesen

Joanne E Morgan

Grace Markham

Ian Ellis

Adnan Y Manzur

Alexander F Markham

Mike Shires

Tim Helliwell

Mariacristina Scoto

Christoph Hübner

David T Bonthron

Graham R Taylor

Eamonn Sheridan

Francesco Muntoni

Ian M Carr

Markus Schuelke

Colin A Johnson

机构：

[1] Leeds Institute of Molecular Medicine,Department of Neuropediatrics and NeuroCure Clinical Research Center

[2] The University of Leeds,Department of Anatomy and Embryology

[3] Charité Universitätsmedizin Berlin,Department of Clinical Genetics

[4] Clinical Genetics Unit,undefined

[5] West Midlands Regional Genetics Service,undefined

[6] Birmingham Women's Hospital,undefined

[7] Faculty of Medicine (Girls' Section),undefined

[8] Al-Azhar University,undefined

[9] Alder Hey Children's Hospital,undefined

[10] Dubowitz Neuromuscular Centre,undefined

[11] Institute of Child Health and Great Ormond Street Hospital for Children,undefined

[12] Royal Liverpool University Hospital,undefined

来源：

Nature Genetics | 2011年 / 43卷

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学科分类号：

摘要：

Markus Schuelke, Colin Johnson and colleagues report the identification of mutations in MEGF10 that cause infantile myopathy with diaphragmatic weakness, areflexia, respiratory distress and dysphagia.

引用

页码：1189 / 1192

页数：3

共 8 条

[1] Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Logan, Clare V.
Lucke, Barbara
Pottinger, Caroline
Abdelhamed, Zakia A.
Parry, David A.
Szymanska, Katarzyna
Diggle, Christine P.
van Riesen, Anne
Morgan, Joanne E.
Markham, Grace
Ellis, Ian
Manzur, Adnan Y.
Markham, Alexander F.
Shires, Mike
Helliwell, Tim
Scoto, Mariacristina
Huebner, Christoph
Bonthron, David T.
Taylor, Graham R.
Sheridan, Eamonn
Muntoni, Francesco
Carr, Ian M.
Schuelke, Markus
Johnson, Colin A.
NATURE GENETICS, 2011, 43 (12) : 1189 - 1192
[2] Two sibs with early onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD) due to homozygous exon 7 deletion in MEGF10
Meilleur, K. G.
Pierson, T. M.
Jain, M.
Donkervoort, S.
Markello, T.
Wolfe, L.
Accardi, J.
Adams, D.
Sincan, M.
Fuentes-Fajardo, K.
Cherukuri, P. F.
Cruz, P.
Bajraktari, I.
Lehky, T.
Teer, J. K.
Mullikin, J. C.
Gahl, W. A.
Boerkoel, C. F.
Tifft, C. J.
Bonnemann, C. G.
NEUROMUSCULAR DISORDERS, 2012, 22 (9-10) : 870 - 871
[3] Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Pierson, Tyler Mark
Markello, Thomas
Accardi, John
Wolfe, Lynne
Adams, David
Sincan, Murat
Tarazi, Noor M.
Fajardo, Karin Fuentes
Cherukuri, Praveen F.
Bajraktari, Ilda
Meilleur, Katy G.
Donkervoort, Sandra
Jam, Mina
Hu, Ying
Lehky, Tanya J.
Cruz, Pedro
Mullikin, James C.
Bonnemann, Carsten
Gahl, William A.
Boerkoel, Cornelius F.
Tifft, Cynthia J.
NEUROMUSCULAR DISORDERS, 2013, 23 (06) : 483 - 488
[4] Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
Boyden, Steven E.
Mahoney, Lane J.
Kawahara, Genri
Myers, Jennifer A.
Mitsuhashi, Satomi
Estrella, Elicia A.
Duncan, Anna R.
Dey, Friederike
DeChene, Elizabeth T.
Blasko-Goehringer, Jessica M.
Boennemann, Carsten G.
Darras, Basil T.
Mendell, Jerry R.
Lidov, Hart G. W.
Nishino, Ichizo
Beggs, Alan H.
Kunkel, Louis M.
Kang, Peter B.
NEUROGENETICS, 2012, 13 (02) : 115 - 124
[5] Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
Steven E. Boyden
Lane J. Mahoney
Genri Kawahara
Jennifer A. Myers
Satomi Mitsuhashi
Elicia A. Estrella
Anna R. Duncan
Friederike Dey
Elizabeth T. DeChene
Jessica M. Blasko-Goehringer
Carsten G. Bönnemann
Basil T. Darras
Jerry R. Mendell
Hart G. W. Lidov
Ichizo Nishino
Alan H. Beggs
Louis M. Kunkel
Peter B. Kang
neurogenetics, 2012, 13 : 115 - 124
[6] Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy
Mitsuhashi, Satomi
Mitsuhashi, Hiroaki
Alexander, Matthew S.
Sugimoto, Hiroyuki
Kang, Peter B.
FEBS LETTERS, 2013, 587 (18) : 2952 - 2957
[7] Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy
Mitsuhashi, S.
Mitsuhashi, H.
Alexander, M. S.
Sugimoto, H.
Kang, P. B.
NEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 849 - 849
[8] ADULT-ONSET RESPIRATORY INSUFFICIENCY, SCOLIOSIS, AND DISTAL JOINT HYPERLAXITY IN PATIENTS WITH MULTIMINICORE DISEASE DUE TO NOVEL MEGF10 MUTATIONS
Liewluck, Teerin
Milone, Margherita
Tian, Xia
Engel, Andrew G.
Staff, Nathan P.
Wong, Lee-Jun
MUSCLE & NERVE, 2016, 53 (06) : 984 - 988

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