Charcot Marie Tooth disease 5 (CMT5)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Charcot Marie Tooth disease 5 (CMT5). This is caused by mutations in the mitofusin 2 (MFN2) gene on chromosome 4q. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the mitofusin 2 (MFN2) gene on chromosome 4q
- The transmission is autosomal dominant
- The onset is in the first to fourth decades
Clinical features
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Synonym
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References
- Harding AE, Thomas PK. Peroneal muscular atrophy with pyramidal features. JNNP 1984; 47:168-172.
- Mostacciuolo ML, Rampoldi L, Righetti E, Vazza G, Schiavon F, Angelini C. Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity. Neuromuscul Disord 2000; 10:497-502.
- Piscosquito G, Saveri P, Magri S, et al. Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations. J Peripher Nerv Syst 2015; 20:380-386.
- Passamonti L, Muglia M, Magariello A, et al. Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy. Neuromuscul Disord 2004; 14:705-710.
