Charcot Marie Tooth disease 2L (CMT2L)

Evidence-based neurology checklist on charcot marie tooth disease 2l (cmt2l): Genetics This is caused by mutations in the HSPB8 gene on chromosome 12q Gene related disorders Clinical features Acronym

Genetics

  • This is caused by mutations in the HSPB8 gene on chromosome 12q

Gene related disorders

Clinical features

Acronym

References

  1. Tang BS, Zhao GH, Luo W, et al. Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum Genet 2005; 116:222-224.
  2. Tang BS, Luo W, Xia K, et al. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. Hum Genet 2004; 114:527-533. 
  3. Nakhro K, Park JM, Kim YJ, et al. A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L. Neuromuscul Disord 2013; 23:656-663. 
  4. Ghaoui R, Palmio J, Brewer J, et al. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology 2016; 86:391-398.
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