Genetic Conditions > adenosine monophosphate deaminase deficiency >

References

These sources were used to develop the Genetics Home Reference condition summary on adenosine monophosphate deaminase deficiency.

Fischer H, Esbjörnsson M, Sabina RL, Strömberg A, Peyrard-Janvid M, Norman B. AMP deaminase deficiency is associated with lower sprint cycling performance in healthy subjects. J Appl Physiol. 2007 Jul;103(1):315-22. Epub 2007 Apr 26. PubMed citation
Gross M, Rötzer E, Kölle P, Mortier W, Reichmann H, Goebel HH, Lochmüller H, Pongratz D, Mahnke-Zizelman DK, Sabina RL. A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. Neuromuscul Disord. 2002 Aug;12(6):558-65. PubMed citation
Hanisch F, Joshi P, Zierz S. AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance. J Neurol. 2008 Mar;255(3):318-22. Epub 2008 Mar 14. PubMed citation
Isackson PJ, Bujnicki H, Harding CO, Vladutiu GD. Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. Mol Genet Metab. 2005 Sep-Oct;86(1-2):250-6. Epub 2005 Jul 22. PubMed citation
Rico-Sanz J, Rankinen T, Joanisse DR, Leon AS, Skinner JS, Wilmore JH, Rao DC, Bouchard C; HERITAGE Family study. Associations between cardiorespiratory responses to exercise and the C34T AMPD1 gene polymorphism in the HERITAGE Family Study. Physiol Genomics. 2003 Jul 7;14(2):161-6. PubMed citation
Sabina RL. Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation. Neurol Clin. 2000 Feb;18(1):185-94. Review. PubMed citation
Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab. 2000 Sep-Oct;71(1-2):10-8. Review. PubMed citation


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