Effect of isolated AMP deaminase deficiency on skeletal muscle function

Effect of isolated AMP deaminase deficiency on skeletal muscle function

Mutation of the AMP deaminase 1 (AMPD1) gene, the predominate AMPD gene expressed in skeletal muscle, is one of the most common inherited defects in the Caucasian population; 2–3% of individuals in this ethnic group are homozygous for defects in the AMPD1 gene. Several studies of human subjects have...

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Bibliographic Details
Main Authors: Jidong Cheng, Hiroko Morisaki, Naomi Sugimoto, Atsushi Dohi, Takuya Shintani, Erika Kimura, Keiko Toyama, Masahito Ikawa, Masaru Okabe, Itsuro Higuchi, Satoshi Matsuo, Yasuaki Kawai, Ichiro Hisatome, Takako Sugama, Edward W. Holmes, Takayuki Morisaki
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
AMP deaminase
Nucleotide metabolism
Muscle
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426913000098

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http://www.sciencedirect.com/science/article/pii/S2214426913000098

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