Charcot Marie Tooth disease 2A (CMT2A)

Evidence-based neurology checklist on charcot marie tooth disease 2a (cmt2a): Genetics and epidemiology This is mainly caused by mitofusin 2 (MFN2) gene mutations The gene is on Chromosome 1p It may also be caused by MPZ mutations Onset phenotypes Clinical features Occasional features Magnetic…

Genetics and epidemiology

  • This is mainly caused by mitofusin 2 (MFN2) gene mutations
  • The gene is on Chromosome 1p
  • It may also be caused by MPZ mutations

Onset phenotypes

Clinical features

Occasional features

Magnetic resonance imaging (MRI)

References

  1. Ouvrier R, Grew S. Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults. Dev Med Child Neurol 2010; 52:328-330.
  2. Chung KW, Suh BC, Cho SY, et al. Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement. JNNP 2010; 81:1203-1206.
  3. Chung KW, Kim SB, Park KD, et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 2006; 129:2103-2118.
  4. Bienfait HME, Baas F, Koelman JHTM, et al. Phenotype of Charcot-Marie-Tooth disease Type 2. Neurology 2007; 68:1658-1667.
  5. Chapon F, Latour P, Diraison P, Schaeffer S, Vandenberghe A. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. JNNP 1999; 66:779-782.
  6. And 2 more. Subscribe to see the full list

Related checklists

Loading...