title: Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
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.
authors.affiliation: Leeds Institute of Molecular Medicine, The University of Leeds, UK.
authors.forename: Clare V
authors.initials: CV
authors.lastname: Logan
authors.forename: Barbara
authors.initials: B
authors.lastname: Lucke
authors.forename: Caroline
authors.initials: C
authors.lastname: Pottinger
authors.forename: Zakia A
authors.initials: ZA
authors.lastname: Abdelhamed
authors.forename: David A
authors.initials: DA
authors.lastname: Parry
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Szymanska
authors.forename: Christine P
authors.initials: CP
authors.lastname: Diggle
authors.forename: Anne
authors.initials: A
authors.lastname: van Riesen
authors.forename: Joanne E
authors.initials: JE
authors.lastname: Morgan
authors.forename: Grace
authors.initials: G
authors.lastname: Markham
authors.forename: Ian
authors.initials: I
authors.lastname: Ellis
authors.forename: Adnan Y
authors.initials: AY
authors.lastname: Manzur
authors.forename: Alexander F
authors.initials: AF
authors.lastname: Markham
authors.forename: Mike
authors.initials: M
authors.lastname: Shires
authors.forename: Tim
authors.initials: T
authors.lastname: Helliwell
authors.forename: Mariacristina
authors.initials: M
authors.lastname: Scoto
authors.forename: Christoph
authors.initials: C
authors.lastname: Hübner
authors.forename: David T
authors.initials: DT
authors.lastname: Bonthron
authors.forename: Graham R
authors.initials: GR
authors.lastname: Taylor
authors.forename: Eamonn
authors.initials: E
authors.lastname: Sheridan
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
authors.forename: Ian M
authors.initials: IM
authors.lastname: Carr
authors.forename: Markus
authors.initials: M
authors.lastname: Schuelke
authors.forename: Colin A
authors.initials: CA
authors.lastname: Johnson
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003680:Deglutition Disorders / Q000235:genetics*; D057645:Deltoid Muscle / Q000473:pathology; D005260:Female; D016368:Frameshift Mutation; D056726:Genetic Association Studies; D040941:Heredity; D006801:Humans; D054643:INDEL Mutation; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D024510:Muscle Development / Q000235:genetics; D009135:Muscular Diseases / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*; D032496:Satellite Cells, Skeletal Muscle / Q000378:metabolism*; D017422:Sequence Analysis, DNA
chemical_list: C522055:MEGF10, human; D008565:Membrane Proteins
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