KEGG   VARIANT: 9927v1
Entry
9927v1                      Variant                                
Name
MFN2 mutation
Type
Loss of function
Gene
MFN2  mitofusin 2 [KO:K06030]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608507
Network
nt06536  Mitophagy
Disease
H00264  Charcot-Marie-Tooth disease
Reference
PMID:29898954
  Authors
El Fissi N, Rojo M, Aouane A, Karatas E, Poliacikova G, David C, Royet J, Rival T
  Title
Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT2A neuropathy.
  Journal
EMBO Rep 19:embr.201745241 (2018)
DOI:10.15252/embr.201745241
Reference
PMID:33598463
  Authors
Schiavon CR, Shadel GS, Manor U
  Title
Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.
  Journal
Front Cell Dev Biol 9:624823 (2021)
DOI:10.3389/fcell.2021.624823
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