Charcot Marie Tooth disease 6 (CMT6)

Evidence-based neurology checklist on charcot marie tooth disease 6 (cmt6): Genetics This is caused by mutations in the mitofusin 2 (MFN2) gene on chromosome 1 The transmission is autosomal dominant It is childhood onset severe phenotype Clinical features Synonym

Genetics

  • This is caused by mutations in the mitofusin 2 (MFN2) gene on chromosome 1
  • The transmission is autosomal dominant
  • It is childhood onset severe phenotype

Clinical features

Synonym

References

  1. Voo I, Allf BE, Udar N, Silva-Garcia R, Vance J, Small KW. Hereditary motor and sensory neuropathy type VI with optic atrophy. Am J Ophthalmol 2003; 136:670-677.
  2. Züchner S, De Jonghe P, Jordanova A, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006; 59:276-281.
  3. Del Bo R, Moggio M, Rango M, et al. Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. Neurology 2008; 71:1959-1966.

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