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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Nature Genetics, Volume 43, No. 12, Year 2011
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Description
Infantile myopathies with diaphragmatic paralysis are genetically heterogeneous, and clinical symptoms do not assist in differentiating between them. We used phased haplotype analysis with subsequent targeted exome sequencing to identify MEGF10 mutations in a previously unidentified type of infantile myopathy with diaphragmatic weakness, areflexia, respiratory distress and dysphagia. MEGF10 is highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers, which are greatly reduced in muscle from individuals with early onset myopathy, areflexia, respiratory distress and dysphagia. © 2011 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Logan, Clare V.
United Kingdom, Leeds
University of Leeds, School of Medicine
Lucke, Barbara
Germany, Berlin
Charité – Universitätsmedizin Berlin
Pottinger, Caroline C.
United Kingdom, Birmingham
Birmingham Women's Hospital
Abdelhamed, Zakia A.
United Kingdom, Leeds
University of Leeds, School of Medicine
Egypt, Cairo
Al-azhar University
Parry, David A.
United Kingdom, Leeds
University of Leeds, School of Medicine
Szymanska, Katarzyna
United Kingdom, Leeds
University of Leeds, School of Medicine
Diggle, Christine P.
United Kingdom, Leeds
University of Leeds, School of Medicine
Van Riesen, Anne V.
Germany, Berlin
Charité – Universitätsmedizin Berlin
Morgan, Joanne E.
United Kingdom, Leeds
University of Leeds, School of Medicine
Markham, Grace
United Kingdom, Leeds
University of Leeds, School of Medicine
Ellis, Ian
United Kingdom, Liverpool
Alder Hey Children's Hospital
Manzur, Adnan Y.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Markham, Alexander F.
United Kingdom, Leeds
University of Leeds, School of Medicine
Shires, Michael
United Kingdom, Leeds
University of Leeds, School of Medicine
Helliwell, Timothy R.
United Kingdom, Liverpool
Royal Liverpool University Hospital
Scoto, Mariacristina
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Hübner, Christoph
Germany, Berlin
Charité – Universitätsmedizin Berlin
Bonthron, David T.
United Kingdom, Leeds
University of Leeds, School of Medicine
Taylor, Graham Roy
United Kingdom, Leeds
University of Leeds, School of Medicine
Sheridan, Eamonn G.
United Kingdom, Leeds
University of Leeds, School of Medicine
Muntoni, Francesco M.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Carr, Ian M.
United Kingdom, Leeds
University of Leeds, School of Medicine
Schuelke, Markus
Germany, Berlin
Charité – Universitätsmedizin Berlin
Johnson, Colin A.
United Kingdom, Leeds
University of Leeds, School of Medicine
Statistics
Citations: 89
Authors: 24
Affiliations: 7
Identifiers
Doi:
10.1038/ng.995
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics