The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

@article{Crimella2010TheGD,
  title={The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.},
  author={Claudia Crimella and Alessandra Tonelli and Giovanni Airoldi and Cinzia Baschirotto and Maria Grazia D'angelo and Sara Bonato and Luciana Losito and Antonio Trabacca and Nereo Bresolin and Maria Teresa Bassi},
  journal={Journal of medical genetics},
  year={2010},
  volume={47 10},
  pages={712-6}
}
BACKGROUND Mutations in GDAP1 associate with demyelinating (CMT4A) and axonal (CMT2K) forms of CMT. While CMT4A shows recessive inheritance, CMT2K can present with either recessive (AR-CMT2K) or dominant segregation pattern (AD-CMT2K), the latter being characterised by milder phenotypes and later onset. The majority of the GDAP1 mutations are associated with CMT4A and AR-CMT2K, with only four heterozygous mutations identified in AD-CMT2K. METHODS We screened GDAP1 gene in a series of 43 index… CONTINUE READING

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