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

Nature Genetics

Volumn 43, Issue 12, 2011, Pages 1189-1193

  Logan, Clare V ^a   Lucke, Barbara ^b   Pottinger, Caroline ^c   Abdelhamed, Zakia A ^a,d   Parry, David A ^a   Szymanska, Katarzyna ^a   Diggle, Christine P ^a   Van Riesen, Anne V ^b   Morgan, Joanne E ^a   Markham, Grace ^a   Ellis, Ian ^e   Manzur, Adnan Y ^f   Markham, Alexander F ^a   Shires, Mike ^a   Helliwell, Tim ^g   Scoto, Mariacristina ^f   Hübner, Christoph ^b   Bonthron, David T ^a   Taylor, Graham R ^a   Sheridan, Eamonn ^a   Muntoni, Francesco ^f   Carr, Ian M ^a   Schuelke, Markus ^b   Johnson, Colin A ^a   more..

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^d AL AZHAR UNIVERSITY   (Egypt)

^e ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AREFLEXIA; ARTICLE; CASE REPORT; CELL DIFFERENTIATION; CELL PROLIFERATION; CHILD; DYSPHAGIA; EARLY ONSET MYOPATHY AREFLEXIA RESPIRATORY DISTRESS AND DYSPHAGIA; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION PROFILING; GENE SEQUENCE; HAPLOTYPE; HUMAN; INFANT; MALE; MEGF 10 GENE; MUSCLE DEVELOPMENT; MYOPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RESPIRATORY DISTRESS; SATELLITE CELL; SEQUENCE ANALYSIS;

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;

EID: 82255175258     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.995     Document Type: Article

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