Charcot Marie Tooth disease dominant intermediate type (CMTDI)

Evidence-based neurology checklist on charcot marie tooth disease dominant intermediate type (cmtdi): CMTDIA This is caused by unknown mutations on chromosome 10q CMTDIB CMTDID CMTDID CMTDIE CMTDIF

CMTDIA

  • This is caused by unknown mutations on chromosome 10q

CMTDIB

CMTDID

CMTDID

CMTDIE

CMTDIF

References

  1. Rossi A, Paradiso C, Cioni R, Rizzuto N, Guazzi G. Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form. J Neurol 1985; 232:91-98.
  2. Verhoeven K, Villanova M, Rossi A, Malandrini A, De Jonghe P, Timmerman V. Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am J Hum Genet 2001; 69:889-894.
  3. Villanova M, Timmerman V, De Jonghe P, et al. Charcot-Marie-Tooth disease: an intermediate form. Neuromuscul Disord 1998; 8:392-393.
  4. Claeys KG, Züchner S, Kennerson M, et al. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain 2009; 132:1741-1752. 
  5. Jordanova A, Irobi J, Thomas FP, et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet 2006; 38:197-202.
  6. And 9 more. Subscribe to see the full list

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