AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance
AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance
About this item
Full title
Author / Creator
Hanisch, F. , Joshi, P. and Zierz, S.
Publisher
Darmstadt: Steinkopff-Verlag
Journal title
Language
English
Formats
Publication information
Publisher
Darmstadt: Steinkopff-Verlag
Subjects
More information
Scope and Contents
Contents
Background
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 a...
Alternative Titles
Full title
AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_70435546
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70435546
Other Identifiers
ISSN
0340-5354
E-ISSN
1432-1459
DOI
10.1007/s00415-008-0530-6
