Charcot Marie Tooth disease 6 (CMT6)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Charcot Marie Tooth disease 6 (CMT6). This is caused by mutations in the mitofusin 2 (MFN2) gene on chromosome 1. Fully referenced neurology checklist.
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
Locked: subscribe to see this section.
Synonym
Locked: subscribe to see this section.
References
- 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.
- 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.
- 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.
