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References OMIM Gene GeneReviews HGMD HGNC
last update : 30-03-2011
Symbol CMT2A2
Location 1p36.22
Name Charcot-Marie-Tooth disease, axonal, type 2A2
Other name(s)
  • Charcot-Marie-Tooth neuropathy type 2A 2
  • hereditary motor and sensory neuropathy IIA2
  • Corresponding gene MFN2
    Other symbol(s) HSM IIa, HMSN2A2
    Main clinical features
  • distal muscle weakness and amyotrophy, sensory loss, decreased or absent tendon reflexes, axonal, with normal nerve conduction velocity, (likely a minor locus)
  • at MRI, enhanced cellular density in cerebral white matter of MFN2 neuropathy which is primarily due to a reactive gliosis without axonal damage and possibly accompanied by mild demyelination (PMID: 18425620))
  • Genetic determination autosomal dominant
    Prevalence at least a third of the cases of Charcot-Marie-Tooth disease type 2 (Loiseau 2007)
    Function/system disorder neurology
    Type disease
    Gene product
    Name mitofusin 2
    Remark(s) . mutation associated to sharply reduced efficacy of oxidative phosphorylation in MFN2-related CMT2A and may contribute to the pathophysiology of the axonal neuropathy (PMID: 17444508))
  • potential role role for ER and ER–mitochondria juxtaposition in the pathogenesis of CMT2A2 (PMID: 19052620))
  • )