Variant: rs1561599823 

    present in Gene: MEGF10
    present in Chromosome: 5
    Position on Chromosome: 127370004
    Alleles of this Variant: T/C

rs1561599823 in MEGF10 gene and MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET PMID 23954233 2013 Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy.

PMID 22101682 2011 Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).

PMID 22371254 2012 Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

PMID 23453856 2013 Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).