Learn More
A 46-year-old Romanian woman was hospitalized because of 1-month history of balance and gait disturbances, slowness of movements, frequent falls and urinary incontinence. There was no family history of movement disorders or other neurological or psychiatric diseases. Exposure to toxic substances, illicit drugs or dopamine receptors blocking agents was(More)
Danon disease, an X-linked multisystemic disorder, is due to deficiency of Lysosome-Associated Membrane Protein 2 (LAMP2). It is usually characterized by hypertrophic cardiomyopathy, mental retardation and skeletal myopathy, sometimes also with atypical features. A 20-year-old man with cognitive impairment was admitted to the Emergency Room because of a(More)
Statin therapy may induce skeletal muscle damage ranging from myalgia to severe rhabdomyolysis. Our previous preclinical studies showed that statin treatment in rats involves the reduction of skeletal muscle ClC-1 chloride channel expression and related chloride conductance (gCl). An increase of the activity of protein kinase C theta (PKC theta) isoform,(More)
  • 1