AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance

@article{Hanisch2008AMPDD,
  title={AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance},
  author={Dr. med. Frank Hanisch and Pranaya V Joshi and Stephan Zierz},
  journal={Journal of Neurology},
  year={2008},
  volume={255},
  pages={318-322}
}
The homozygous c.34C>T mutation in the AMPD1 gene encoding the muscle-specific isoform of AMP deaminase (AMPD) accounts for the vast majority of inherited skeletal muscle AMPD deficiencies. It is controversial (i) whether AMPD deficiency is associated with exercise-induced complaints and (ii) whether an acquired form exists in which an underlying neuromuscular disorder additionally lowers the AMPD activity. c.34C>T mutation (homozygous- TT, heterozygous-CT,wildtype-CC) was screened in 107… CONTINUE READING

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