GST Polymorphisms and GST Enzyme Activity in Type 1 Myotonic Dystrophy

GST Polymorphisms and GST Enzyme Activity in Type 1 Myotonic Dystrophy

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: Cre...

Myotonic dystrophy type 1

Myotonic dystrophy type 1 (DM1) is a distal myopathy and a multisystem disease occurring with an incidence of 1/8000, as a result of a CTG trinucleotide repeat expansion in the serinetreonine-protein kinase (DMPK) coding gene on chromosome 19q13.3. In DM1 patients the length of the CTG expansion ranges from 50 to 4000. Disease severity correlates with repeat length and the phenomenon of genetic...

GST Polymorphisms: Bonassi et al. Respond

Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients

Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...

Life habits in myotonic dystrophy type 1.

OBJECTIVE To describe and compare life habits between individuals with adult and mild phenotypes of myotonic dystrophy; identify life habit dimensions in which accomplishment is compromised; and describe satisfaction related to life habits. DESIGN Cross-sectional study. SUBJECTS A random sample of 200 subjects with myotonic dystrophy (42 mild phenotypes, 158 adult phenotypes). MEASUREMENT...