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- Title
AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance.
- Authors
Hanisch, Frank; Joshi, Pushpa; Zierz, Stephan
- Abstract
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.
- Publication
Journal of neurology, 2008, Vol 255, Issue 3, p318
- ISSN
0340-5354
- Publication type
Journal Article
- DOI
10.1007/s00415-008-0530-6