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 et al. (7 more authors) (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

Abstract

Metadata

Authors/Creators:
  • Logan, CV
  • Lucke, B
  • Pottinger, C
  • Abdelhamed, ZA
  • Parry, DA
  • Szymanska, K
  • Diggle, CP
  • Riesen, A
  • Morgan, JE
  • Markham, G
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: 04 Nov 2016 02:32
Published Version: http://dx.doi.org/10.1038/ng.995
Status: Published
Publisher: Nature Publishing Group
Identification Number: https://doi.org/10.1038/ng.995

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