GST Polymorphisms and GST Enzyme Activity in Type 1 Myotonic Dystrophy
نویسندگان
چکیده
Abbreviations: GSTs: Glutathione S-Transferases; DM: Myotonic Dystrophy; PROMM: Proximal Myotonic Myopathy; ROS: Reactive Oxygen Species; Ile: Isoleucine; Val: Valine; EMG: Electromyographia; NCV: Nerve Conduction Velocity; OD: Optical Density; SNP: Single Nucleotide Polymorphisms; LWD: Learning and Writing Disability; SLD: Speech and Languages Disability; SCK: Serum Creatine Kinase; CK-MM: Creatine Kinase-Muscle Isoform; CK-MB: Creatine Kinase-Isoform; PCR: Polymerase Chain Reaction; +/+/+: GSTM1, GST1 and GSTM3 present; -/-/-: GSTM1, GSTT1 and GSTM3 absent; ile/val and ile/ile = heterozygous and homozygous status of GSTP1
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