KEGG   VARIANT: 84466v1
Entry
84466v1                      Variant                               
Name
MEGF10 mutation
Type
Loss of function
Gene
MEGF10  multiple EGF like domains 10 [KO:K24068]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612453
Network
nt06535  Efferocytosis
Disease
H01810  Congenital myopathy
H02321  Early-onset myopathy, areflexia, respiratory distress, and dysphagia
Reference
  Authors
Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, van Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hubner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA
  Title
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
  Journal
Nat Genet 43:1189-92 (2011)
DOI:10.1038/ng.995
Reference
  Authors
Takayama K, Mitsuhashi S, Shin JY, Tanaka R, Fujii T, Tsuburaya R, Mukaida S, Noguchi S, Nonaka I, Nishino I
  Title
Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation.
  Journal
Neuromuscul Disord 26:604-9 (2016)
DOI:10.1016/j.nmd.2016.06.005
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