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

Logan, CV, Lucke, B, Pottinger, C, Abdelhamed, ZA, Parry, DA, Szymanska, K, Diggle, CP, Riesen, A, Morgan, JE and Markham, G (2011) Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nature Genetics, 43 (12). 1189 - 1192 . ISSN 1061-4036

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Abstract

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.

Item Type: Article
Keywords: Abnormalities, Multiple, Adolescent, Child, Child, Preschool, Consanguinity, Deglutition Disorders, Deltoid Muscle, Female, Frameshift Mutation, Genetic Association Studies, Heredity, Humans, INDEL Mutation, Infant, Infant, Newborn, Male, Membrane Proteins, Muscle Development, Muscular Diseases, Mutation, Missense, Pedigree, Respiratory Distress Syndrome, Newborn, Satellite Cells, Skeletal Muscle, Sequence Analysis, DNA
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 14 Mar 2012 10:49
Last Modified: 08 Feb 2013 17:37
Published Version: http://dx.doi.org/10.1038/ng.995
Status: Published
Publisher: Nature Publishing Group
Identification Number: 10.1038/ng.995
URI: http://eprints.whiterose.ac.uk/id/eprint/43712

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