Condition: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET


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).

PMID 28498977 2017 Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.

PMID 27170117 2016 Megf10 Is a Receptor for C1Q That Mediates Clearance of Apoptotic Cells by Astrocytes.