Non-lethal congenital hypotonia due to glycogen storage disease type IV.

@article{Burrow2006NonlethalCH,
  title={Non-lethal congenital hypotonia due to glycogen storage disease type IV.},
  author={Thomas Andrew Burrow and Robert J. Hopkin and Kevin E. Bove and Lili Miles and Brenda L Y Wong and Arabinda Kumar Choudhary and Deeksha M. Bali and Sing Chung Li and Yuan-Tsong Chen},
  journal={American journal of medical genetics. Part A},
  year={2006},
  volume={140 8},
  pages={878-82}
}
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive genetic disorder due to a deficiency in the activity of the glycogen branching enzyme (GBE). A deficiency in GBE activity results in the accumulation of glycogen with fewer branching points and long, unbranched outer chains. The disorder results in a variable phenotype, including musculoskeletal, cardiac, neurological, and hepatic involvement, alone or in continuum, which can be identified at any stage of life. The classic form… CONTINUE READING